ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)

dbSNP: rs1555285891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548917 SCV000626853 pathogenic Wilson disease 2022-01-17 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Wilson disease (PMID: 10502777, 16283883, 21219664; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 456556). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1095 of the ATP7B protein (p.Gln1095Pro).
Genome-Nilou Lab RCV000548917 SCV001977259 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480668 SCV004226652 pathogenic not provided 2023-03-28 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3_strong, PS4_moderate

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