ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp)

gnomAD frequency: 0.00016  dbSNP: rs557577836
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671607 SCV000796595 uncertain significance Wilson disease 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671607 SCV000931546 uncertain significance Wilson disease 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 136 of the ATP7B protein (p.Arg136Trp). This variant is present in population databases (rs557577836, gnomAD 0.03%). This missense change has been observed in individual(s) with Wilson disease (PMID: 23518715). ClinVar contains an entry for this variant (Variation ID: 555735). 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 not expected to disrupt ATP7B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000671607 SCV002027186 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000671607 SCV004362506 uncertain significance Wilson disease 2023-02-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 136 of the ATP7B protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATP7B-related disorders in the literature. This variant has been identified in 22/280732 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000671607 SCV001453799 uncertain significance Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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