ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val)

dbSNP: rs779494870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009173 SCV002272783 pathogenic Wilson disease 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1341 of the ATP7B protein (p.Gly1341Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 17272994, 32043565). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1488485). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects ATP7B function (PMID: 19937698). This variant disrupts the p.Gly1341 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16283883, 21610751, 21682854, 22484412). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002009173 SCV005053094 pathogenic Wilson disease 2023-12-19 criteria provided, single submitter clinical testing

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