ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2557T>G (p.Phe853Val)

gnomAD frequency: 0.00001  dbSNP: rs755901634
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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 RCV001298225 SCV001487272 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2020-12-17 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"). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant is present in population databases (rs755901634, ExAC 0.001%). This sequence change replaces phenylalanine with valine at codon 853 of the RPGRIP1 protein (p.Phe853Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine.

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