ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu)

gnomAD frequency: 0.00002  dbSNP: rs755322533
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695148 SCV000823630 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 313 of the RPGRIP1 protein (p.Gly313Glu). This variant is present in population databases (rs755322533, gnomAD 0.003%). 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: 573467). 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"). 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.
Illumina Laboratory Services, Illumina RCV001113070 SCV001270808 uncertain significance Leber congenital amaurosis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001113071 SCV001270809 uncertain significance Cone-rod dystrophy 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001113070 SCV002044878 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001113071 SCV002044889 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025230 SCV005015357 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.938G>A (p.G313E) alteration is located in exon 8 (coding exon 8) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 938, causing the glycine (G) at amino acid position 313 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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