ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val)

gnomAD frequency: 0.00002  dbSNP: rs758652031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352196 SCV001546733 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 764 of the RPGRIP1 protein (p.Ala764Val). This variant is present in population databases (rs758652031, gnomAD 0.01%). This missense change has been observed in individual(s) with primary open angle glaucoma (PMID: 21224891). ClinVar contains an entry for this variant (Variation ID: 1047479). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change does not substantially affect RPGRIP1 function (PMID: 21224891). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376539 SCV001573766 uncertain significance Leber congenital amaurosis 6 2021-04-08 criteria provided, single submitter research The RPGRIP1 c.2291C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Genome-Nilou Lab RCV001376539 SCV002045056 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800987 SCV002045067 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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