ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) (rs779716464)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666031 SCV000790264 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV001035468 SCV001198795 likely pathogenic not provided 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3620 of the USH2A protein (p.Ile3620Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs779716464, ExAC 0.006%). This variant has been observed in several individuals affected with USH2A-related conditions (PMID: 24043777, 25268133, 30029497, Invitae). ClinVar contains an entry for this variant (Variation ID: 551066). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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