ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)

dbSNP: rs1257330000
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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 RCV001221684 SCV001393744 pathogenic Wilson disease 2023-03-10 criteria provided, single submitter clinical testing 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: 950061). This missense change has been observed in individual(s) with Wilson disease (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 threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1288 of the ATP7B protein (p.Thr1288Pro). This variant disrupts the p.Thr1288 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 10394193, 16416207), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001221684 SCV002086792 uncertain significance Wilson disease 2021-09-29 no assertion criteria provided clinical testing

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