ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)

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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 RCV002893878 SCV003233643 pathogenic Cataract 14 multiple types 2022-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GJA3 protein function. This missense change has been observed in individual(s) with congenital cataract (Invitae). In at least one individual the variant was observed to be de novo. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 203 of the GJA3 protein (p.Phe203Leu).

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