ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser)

dbSNP: rs756503753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113376 SCV001271142 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 RCV001113377 SCV001271143 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.
Invitae RCV001220517 SCV001392511 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1190 of the RPGRIP1 protein (p.Arg1190Ser). This variant is present in population databases (rs756503753, gnomAD 0.04%). 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: 883179). 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.
Genome-Nilou Lab RCV001113376 SCV002045570 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001113377 SCV002045581 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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