ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.1904C>G (p.Ala635Gly) (rs200325360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000276189 SCV000334720 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing
Invitae RCV001069833 SCV001235030 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 635 of the RPGRIP1 protein (p.Ala635Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs200325360, ExAC 0.03%). This variant has been observed in individuals affected with glaucoma (PMID: 21224891). ClinVar contains an entry for this variant (Variation ID: 282963). 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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