ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)

dbSNP: rs747584649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236933 SCV001409674 pathogenic Wilson disease 2022-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 962980). This missense change has been observed in individual(s) with Wilson disease (PMID: 17264425, 18698682, 30120852). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs747584649, gnomAD 0.007%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1010 of the ATP7B protein (p.Lys1010Arg).
Baylor Genetics RCV001236933 SCV004216395 likely pathogenic Wilson disease 2023-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001236933 SCV002086832 likely pathogenic Wilson disease 2020-03-27 no assertion criteria provided clinical testing

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