ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2212A>G (p.Ile738Val)

gnomAD frequency: 0.00001  dbSNP: rs774600464
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001944287 SCV002213892 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-06-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs774600464, ExAC 0.007%). This sequence change replaces isoleucine with valine at codon 738 of the RPGRIP1 protein (p.Ile738Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RPGRIP1-related conditions.

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