ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) (rs757676723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668847 SCV000793519 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000792611 SCV000931917 likely pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 5006 of the USH2A protein (p.Thr5006Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs757676723, ExAC 0.003%). This variant has been observed in several individuals affected with Usher syndrome (PMID: 27583663, 27460420, 28944237). ClinVar contains an entry for this variant (Variation ID: 553406). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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