ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002956000 SCV003676286 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.22G>A (p.G8R) alteration is located in exon 2 (coding exon 1) of the GJA8 gene. This alteration results from a G to A substitution at nucleotide position 22, causing the glycine (G) at amino acid position 8 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003619817 SCV004518760 uncertain significance Cataract 1 multiple types 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 8 of the GJA8 protein (p.Gly8Arg). This variant is present in population databases (rs202041458, gnomAD 0.02%). 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: 2342241). 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 95%. 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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