NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001785518.7

Allele description [Variation Report for NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)]

NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)

Gene:

GALC:galactosylceramidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

Preferred name:

NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)

HGVS:

NC_000014.9:g.87939915A>G
NG_011853.3:g.58649T>C
NM_000153.4:c.1901T>CMANE SELECT
NM_001201401.2:c.1832T>C
NM_001201402.2:c.1823T>C
NP_000144.2:p.Leu634Ser
NP_001188330.1:p.Leu611Ser
NP_001188331.1:p.Leu608Ser
NC_000014.8:g.88406259A>G
NG_011853.2:g.58649T>C
NM_000153.3:c.1901T>C
P54803:p.Leu634Ser

Protein change:

L608S

Links:

UniProtKB: P54803#VAR_013968; dbSNP: rs138577661

NCBI 1000 Genomes Browser:

rs138577661

Molecular consequence:

NM_000153.4:c.1901T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001201401.2:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001201402.2:c.1823T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002021226	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004226675	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 28, 2023)	germline	clinical testing	PubMed (16) [See all records that cite these PMIDs] 16607461, 24252386, 26795590, 26865610, 27126738, 27638593, 27679535, 27780934, 29951496, 30089515, 32064984, 32677356, 33178108, 35654103, 9272171, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002021226

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 12, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004226675

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 28, 2023)

germline

clinical testing

PubMed (16)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.

Xu C, Sakai N, Taniike M, Inui K, Ozono K.

J Hum Genet. 2006;51(6):548-554. doi: 10.1007/s10038-006-0396-3. Epub 2006 Apr 11.

PubMed [citation]

PMID:: 16607461

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N.

Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16.

PubMed [citation]

PMID:: 24252386

See all PubMed Citations (16)

Details of each submission

From Revvity Omics, Revvity, SCV002021226.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (16)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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