ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1165A>T (p.Ser389Cys)

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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 RCV002303274 SCV002598096 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-16 criteria provided, single submitter clinical testing 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: "Tolerated"; 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. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 389 of the RPGRIP1 protein (p.Ser389Cys). This variant is not present in population databases (gnomAD no frequency).

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