ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.328T>C (p.Cys110Arg)

dbSNP: rs1602347741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315561 SCV001506139 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with RP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 110 of the RP2 protein (p.Cys110Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003183 SCV001161259 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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