ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)

dbSNP: rs540935874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667455 SCV000791904 likely pathogenic Wilson disease 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000667455 SCV001232686 pathogenic Wilson disease 2023-03-24 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: 552229). This missense change has been observed in individuals with Wilson disease (PMID: 9671269, 15967699, 20958917, 24932333, 30230192). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 918 of the ATP7B protein (p.Asp918Asn).
Genome-Nilou Lab RCV000667455 SCV001977154 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667455 SCV001459720 uncertain significance Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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