ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys)

dbSNP: rs747575530
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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 RCV001922690 SCV002167503 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-12 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1398945). This missense change has been observed in individual(s) with clincal features of inherited retinal dystrophy (Invitae). This variant is present in population databases (rs747575530, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 649 of the RPGRIP1 protein (p.Gln649Lys).

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