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NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg) AND Holoprosencephaly-hypokinesia-congenital contractures syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)]

NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)

GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)
  • NC_000023.11:g.49113870C>G
  • NG_021310.2:g.14873G>C
  • NM_015698.6:c.1279G>CMANE SELECT
  • NP_056513.2:p.Gly427Arg
  • NC_000023.10:g.48970808C>G
Protein change:
Molecular consequence:
  • NM_015698.6:c.1279G>C - missense variant - [Sequence Ontology: SO:0001583]


Holoprosencephaly-hypokinesia-congenital contractures syndrome
Holoprosencephaly with fetal akinesia/hypokinesia sequence
MONDO: MONDO:0010610; MedGen: C1844016; OMIM: 306990

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV004801545Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)
Uncertain significance
(Apr 29, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004801545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


The GPKOW c.1279G>C p.(Gly427Arg) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The Gly427 residue is located in the second KOW domain (Zang et al. 2014). Based on the limited evidence, the c.1279G>C p.(Gly427Arg) variant is classified as a variant of uncertain significance for holoprosencephaly-hypokinesia-congenital contractures syndrome.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 23, 2024