ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) (rs1202573136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665421 SCV000789541 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-08 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075120 SCV001240731 uncertain significance Retinal dystrophy 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001248207 SCV001421677 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 4593 of the USH2A protein (p.Ser4593Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Usher syndrome (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 550628). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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