ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.671C>T (p.Ala224Val)

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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 RCV002811793 SCV003208135 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-06-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs376060001, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 224 of the RPGRIP1 protein (p.Ala224Val). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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