ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) (rs139474806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669731 SCV000794510 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074211 SCV001239784 uncertain significance Retinal dystrophy 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV001244688 SCV001417926 uncertain significance not provided 2019-12-29 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 4447 of the USH2A protein (p.Met4447Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs139474806, ExAC 0.09%). This variant has been observed in individual(s) with Usher syndrome (PMID: 29625443). ClinVar contains an entry for this variant (Variation ID: 554155). 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: "Benign"; Align-GVGD: "Class C15"). 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.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003255 SCV001161336 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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