ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.122C>T (p.Ala41Val)

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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 RCV003509164 SCV004368963 uncertain significance Cataract 1 multiple types 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 41 of the GJA8 protein (p.Ala41Val). This variant is present in population databases (rs782542091, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GJA8-related conditions. 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 GJA8 protein function with a positive predictive value of 80%. 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.

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