ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038820 SCV001202318 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 838 of the RPGRIP1 protein (p.Ile838Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs772480252, ExAC 0.02%). This variant has been observed in individual(s) with glaucoma (PMID: 21224891). This variant has been reported to affect RPGRIP1 protein function (PMID: 21224891). 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.

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