ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)

gnomAD frequency: 0.00001  dbSNP: rs1480250597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990852 SCV002262210 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 864 of the RPGRIP1L protein (p.Tyr864His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1L-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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002497940 SCV002783842 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-23 criteria provided, single submitter clinical testing

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