ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2916G>T (p.Glu972Asp)

gnomAD frequency: 0.00001  dbSNP: rs1233085262
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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 RCV001349020 SCV001543347 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 972 of the RPGRIP1 protein (p.Glu972Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant is not present in population databases (ExAC no frequency).

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