ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.956A>G (p.His319Arg)

dbSNP: rs756920414
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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 RCV002034422 SCV002309893 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 319 of the RPGRIP1 protein (p.His319Arg). This variant is present in population databases (rs756920414, gnomAD 0.002%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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