ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.604C>T (p.Arg202Cys)

dbSNP: rs765192739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622362 SCV000741532 likely pathogenic Inborn genetic diseases 2016-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403435 SCV004110690 uncertain significance GJA1-related condition 2023-03-02 criteria provided, single submitter clinical testing The GJA1 c.604C>T variant is predicted to result in the amino acid substitution p.Arg202Cys. This variant was reported in the homozygous state in two siblings with typical features of oculodentodigital dysplasia (Family 2, Machado et al. 2023. PubMed ID: 36396593). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-121768597-C-T); however, this variant falls within a highly paralogous region therefore allele frequency data should be interpreted with caution. An alternative nucleotide change affecting the same amino acid (p.Arg202His) has been previously reported in individuals with oculodentodigital dysplasia (Paznekas et al. 2003. PubMed ID: 12457340; Fenwick et al. 2008. PubMed ID: 18946008; Shibayama et al. 2005. PubMed ID: 15879313). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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