ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn)

gnomAD frequency: 0.00001  dbSNP: rs782429592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001918888 SCV002183504 uncertain significance Cataract 1 multiple types 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 430 of the GJA8 protein (p.Asp430Asn). This variant is present in population databases (rs782429592, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GJA8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411711). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GJA8 protein function. 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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