ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1439C>G (p.Ala480Gly)

gnomAD frequency: 0.00001  dbSNP: rs1882241075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947966 SCV002188041 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 480 of the RPGRIP1 protein (p.Ala480Gly). This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1416756). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions.

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