ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002829959 SCV003214607 uncertain significance Oculodentodigital dysplasia, autosomal recessive 2022-03-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with congenital heart defect(s) (PMID: 19615768). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 153 of the GJA1 protein (p.Arg153Gln).
GeneDx RCV003332386 SCV004039601 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Reported in an individual with congenital heart disease in published literature (Wang et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19615768)

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