ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.687C>A (p.Ser229Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003063769 SCV003351832 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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 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. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 229 of the RPGRIP1 protein (p.Ser229Arg).

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