ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)

dbSNP: rs1057519200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415874 SCV000493559 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199770 SCV001162686 pathogenic Cone dystrophy 2020-01-09 criteria provided, single submitter research
Invitae RCV001359271 SCV001555134 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 90 of the RPGRIP1 protein (p.Val90Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of retinal dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 374686). 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 tolerated. 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 RCV001800664 SCV002044833 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800663 SCV002045319 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing

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