ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)

dbSNP: rs778914828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV000668962 SCV001739501 likely pathogenic Wilson disease 2020-02-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668962 SCV001977539 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV000668962 SCV003442150 pathogenic Wilson disease 2022-07-21 criteria provided, single submitter clinical testing 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: 553495). This missense change has been observed in individual(s) with clinical features of Wilson disease (PMID: 11043508, 27022412, 27982432, 34470610, 34539730). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs778914828, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1279 of the ATP7B protein (p.Asp1279Gly).
Counsyl RCV000668962 SCV000793647 uncertain significance Wilson disease 2017-08-22 flagged submission clinical testing

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