ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg)

dbSNP: rs769167245
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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 RCV001877787 SCV002142960 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-11 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 650 of the RPGRIP1 protein (p.Pro650Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Mendelics RCV002246569 SCV002519288 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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