ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.140A>T (p.Asp47Val)

dbSNP: rs1554200995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560533 SCV000647916 pathogenic Oculodentodigital dysplasia, autosomal recessive 2017-04-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Several different missense substitution at this codon (p.Asp47) in the paralogous gene GJA8 have been determined to be pathogenic (PMID: 26004348, 27216975). This suggests that the aspartic acid residue is critical for GJA1 protein function and that other missense substitutions at this position may also be pathogenic, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GJA1-related disease. This sequence change replaces aspartic acid with valine at codon 47 of the GJA1 protein (p.Asp47Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant has been shown to arise de novo in an individual affected with a GJA1-related condition (Invitae).
CeGaT Center for Human Genetics Tuebingen RCV000998674 SCV001154861 likely pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing

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