ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser)

gnomAD frequency: 0.00003  dbSNP: rs780673799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037555 SCV001200974 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-22 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"). ClinVar contains an entry for this variant (Variation ID: 836429). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs780673799, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 263 of the RPGRIP1 protein (p.Ala263Ser).
GeneDx RCV001759941 SCV001990705 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001800941 SCV002044856 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800942 SCV002044867 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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