ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1173C>G (p.Ser391Arg)

gnomAD frequency: 0.00002  dbSNP: rs373962100
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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 RCV001234243 SCV001406879 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 391 of the RPGRIP1 protein (p.Ser391Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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. 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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