ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg)

gnomAD frequency: 0.00008  dbSNP: rs745899255
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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 RCV001372291 SCV001568915 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 591 of the RPGRIP1 protein (p.Lys591Arg). This variant is present in population databases (rs745899255, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1062558). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002548658 SCV003692685 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.1772A>G (p.K591R) alteration is located in exon 14 (coding exon 14) of the RPGRIP1 gene. This alteration results from a A to G substitution at nucleotide position 1772, causing the lysine (K) at amino acid position 591 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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