ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2987A>G (p.Glu996Gly)

gnomAD frequency: 0.00001  dbSNP: rs1254110768
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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 RCV001974723 SCV002216091 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-11-10 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 996 of the RPGRIP1 protein (p.Glu996Gly).

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