ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.521C>T (p.Pro174Leu)

gnomAD frequency: 0.00001  dbSNP: rs780733881
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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 RCV001886463 SCV002150276 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 174 of the RPGRIP1 protein (p.Pro174Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs780733881, ExAC 0.003%). 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: "Benign"; 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.

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