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NM_000165.5(GJA1):c.605G>A (p.Arg202His) AND Oculodentodigital dysplasia, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 2020
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:
RCV000698171.10

Allele description [Variation Report for NM_000165.5(GJA1):c.605G>A (p.Arg202His)]

NM_000165.5(GJA1):c.605G>A (p.Arg202His)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.605G>A (p.Arg202His)
HGVS:
  • NC_000006.12:g.121447452G>A
  • NG_008308.1:g.16854G>A
  • NM_000165.5:c.605G>AMANE SELECT
  • NP_000156.1:p.Arg202His
  • LRG_1289t1:c.605G>A
  • LRG_1289:g.16854G>A
  • LRG_1289p1:p.Arg202His
  • NC_000006.11:g.121768598G>A
  • NM_000165.3:c.605G>A
  • NM_000165.4:c.605G>A
Protein change:
R202H
Links:
dbSNP: rs750294638
NCBI 1000 Genomes Browser:
rs750294638
Molecular consequence:
  • NM_000165.5:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculodentodigital dysplasia, autosomal recessive
Synonyms:
OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE; ODDD, AUTOSOMAL RECESSIVE; ODOD, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009768; MedGen: C2749477; Orphanet: 2710; OMIM: 257850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000826816Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 30, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.

Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27.

PubMed [citation]
PMID:
12457340
PMCID:
PMC379233

Novel mutations in GJA1 cause oculodentodigital syndrome.

Fenwick A, Richardson RJ, Butterworth J, Barron MJ, Dixon MJ.

J Dent Res. 2008 Nov;87(11):1021-6.

PubMed [citation]
PMID:
18946008
PMCID:
PMC2588666
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000826816.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces arginine with histidine at codon 202 of the GJA1 protein (p.Arg202His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change leads to intracellular retention, reduced gap junction plaque formation and impaired coupling (PMID: 15879313, 16531323). This variant has been reported in several individuals affected with oculodentodigital dysplasia (PMID: 12457340, 18946008). ClinVar contains an entry for this variant (Variation ID: 372744). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024