ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)

dbSNP: rs1593672840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817129 SCV000957674 pathogenic Wilson disease 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1027 of the ATP7B protein (p.Asp1027His). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp1027 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 26799313, 30230192), which suggests that this may be a clinically significant amino acid residue. 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: 660018). This missense change has been observed in individuals with Wilson disease (PMID: 29321352; Invitae; http//waset.org/publications/10006441).
Baylor Genetics RCV000817129 SCV005053078 pathogenic Wilson disease 2024-02-12 criteria provided, single submitter clinical testing

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