ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.196T>C (p.Tyr66His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947206 SCV003265659 likely pathogenic Cataract 14 multiple types 2022-02-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 66 of the GJA3 protein (p.Tyr66His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital cataracts (Invitae). In at least one individual the variant was observed to be de novo. 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 disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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