ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052468 SCV001216680 likely pathogenic not provided 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 2744 of the USH2A protein (p.Trp2744Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Usher syndrome (PMID: 29625443, 26338283, 29641573, 21686329). 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.
Blueprint Genetics RCV001075376 SCV001240997 pathogenic Retinal dystrophy 2018-06-12 criteria provided, single submitter clinical testing

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