ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg)

dbSNP: rs749295693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956758 SCV002251121 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-12-08 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs749295693, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1091 of the RPGRIP1 protein (p.Ser1091Arg).
Ambry Genetics RCV002569210 SCV003673070 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.3271A>C (p.S1091R) alteration is located in exon 20 (coding exon 20) of the RPGRIP1 gene. This alteration results from a A to C substitution at nucleotide position 3271, causing the serine (S) at amino acid position 1091 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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