ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3107A>C (p.Asn1036Thr)

dbSNP: rs2139263302
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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 RCV002015434 SCV002277777 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-11-27 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1036 of the RPGRIP1 protein (p.Asn1036Thr).

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