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NM_000018.4(ACADVL):c.436G>A (p.Val146Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 13, 2020)
Last evaluated:
Nov 1, 2019
Accession:
VCV000932856.2
Variation ID:
932856
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.436G>A (p.Val146Met)

Allele ID
921055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7221017 (GRCh38) GRCh38 UCSC
17: 7124336 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7124336G>A
NC_000017.11:g.7221017G>A
NG_007975.1:g.6184G>A
... more HGVS
Protein change
V146M, V169M, V70M, V124M
Other names
-
Canonical SPDI
NC_000017.11:7221016:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 1, 2019 RCV001200816.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADVL - - GRCh38
GRCh37
891 973

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 01, 2019)
criteria provided, single submitter
Method: clinical testing
Very long chain acyl-CoA dehydrogenase deficiency
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV001365016.2
Submitted: (Jul 13, 2020)
Evidence details
Comment:
The NM_000018.3:c.436G>A (NP_000009.1:p.Val146Met) [GRCH38: NC_000017.11:g.7221017G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 24, 2021