ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)

dbSNP: rs1212479289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666566 SCV000790876 uncertain significance Wilson disease 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000666566 SCV000953667 pathogenic Wilson disease 2022-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser693 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 17272994, 18034201), 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: 551492). This missense change has been observed in individual(s) with Wilson disease (PMID: 18034201; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 693 of the ATP7B protein (p.Ser693Cys).
Genome-Nilou Lab RCV000666566 SCV001977173 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666566 SCV004216380 likely pathogenic Wilson disease 2023-07-11 criteria provided, single submitter clinical testing

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