ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) (rs753594031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410994 SCV000486474 likely pathogenic Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000410994 SCV001205495 pathogenic Wilson disease 2019-12-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1035 of the ATP7B protein (p.Gly1035Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ATP7B variant in several individuals affected with Wilson disease (PMID: 21707886, 10070620, 22940187, 17587212, 9311736). ClinVar contains an entry for this variant (Variation ID: 371021). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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