ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) (rs769484789)

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Total submissions: 2
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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.

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