ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1856C>T (p.Ser619Phe)

gnomAD frequency: 0.00001  dbSNP: rs779121574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325996 SCV001517008 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant is present in population databases (rs779121574, ExAC 0.01%). This sequence change replaces serine with phenylalanine at codon 619 of the RPGRIP1 protein (p.Ser619Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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