Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665788 | SCV000789962 | likely pathogenic | Wilson disease | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665788 | SCV001235665 | pathogenic | Wilson disease | 2019-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with phenylalanine at codon 1262 of the ATP7B protein (p.Val1262Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs769484789, ExAC 0.009%). This variant has been observed in individual(s) affected with Wilson's disease (PMID: PMID: 10544227, 20485189, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550902). This variant has been reported to affect ATP7B protein function (PMID: 19937698). For these reasons, this variant has been classified as Pathogenic. |