ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) (rs749889050)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674387 SCV000799712 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV001047727 SCV001211707 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 4857 of the USH2A protein (p.Gly4857Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs749889050, ExAC 0.009%). This variant has been observed in individual(s) with Usher syndrome (PMID: 27460420). ClinVar contains an entry for this variant (Variation ID: 558160). 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 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 RCV001003250 SCV001161330 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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