ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln)

gnomAD frequency: 0.00021  dbSNP: rs201191634
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324578 SCV000336281 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV001058094 SCV001222637 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1169 of the RPGRIP1 protein (p.Glu1169Gln). This variant is present in population databases (rs201191634, gnomAD 0.07%). 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: 283906). 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: "Probably 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.
Genome-Nilou Lab RCV001800647 SCV002045548 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800648 SCV002045559 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521913 SCV003730638 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.3505G>C (p.E1169Q) alteration is located in exon 21 (coding exon 21) of the RPGRIP1 gene. This alteration results from a G to C substitution at nucleotide position 3505, causing the glutamic acid (E) at amino acid position 1169 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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