ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)

gnomAD frequency: 0.00001  dbSNP: rs777629392
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670079 SCV000794895 likely pathogenic Wilson disease 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000670079 SCV001201648 pathogenic Wilson disease 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 850 of the ATP7B protein (p.Thr850Ile). This variant is present in population databases (rs777629392, gnomAD 0.01%). This missense change has been observed in individual(s) with Wilson disease (PMID: 21034864, 27398169, 29321352). ClinVar contains an entry for this variant (Variation ID: 554444). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001509442 SCV001716164 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing PP3, PP4, PM2, PS4_moderate
Fulgent Genetics, Fulgent Genetics RCV000670079 SCV002799405 pathogenic Wilson disease 2022-02-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670079 SCV004216408 likely pathogenic Wilson disease 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670079 SCV002087843 pathogenic Wilson disease 2021-06-28 no assertion criteria provided clinical testing

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