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:: 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:: RCV003985202.1

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

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

Gene:

GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

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

HGVS:

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:

G427R

Molecular consequence:

NM_015698.6:c.1279G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801545	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020)	Uncertain significance (Apr 29, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801545

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)

Uncertain significance
(Apr 29, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004801545.1

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

Description

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.

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

Last Updated: Mar 23, 2024

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