ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)

dbSNP: rs778732681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036116 SCV001199464 pathogenic Wilson disease 2023-07-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1320 of the ATP7B protein (p.Arg1320Ser). This variant is present in population databases (rs778732681, gnomAD 0.006%). This missense change has been observed in individual(s) with Wilson disease (PMID: 23843956, 27398169). 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: 835275). 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 ATP7B protein function. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001036116 SCV001977221 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001036116 SCV004216450 pathogenic Wilson disease 2023-03-20 criteria provided, single submitter clinical testing

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