ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002607688 SCV003511503 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-03-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 571 of the RPGRIP1 protein (p.Arg571Gly). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004673818 SCV005156228 uncertain significance Inborn genetic diseases 2024-06-18 criteria provided, single submitter clinical testing The c.1711C>G (p.R571G) alteration is located in exon 13 (coding exon 13) of the RPGRIP1 gene. This alteration results from a C to G substitution at nucleotide position 1711, causing the arginine (R) at amino acid position 571 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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