ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)

gnomAD frequency: 0.00001  dbSNP: rs775017742
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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 RCV002008678 SCV002274714 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-10-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 595 of the RPGRIP1L protein (p.Asp595Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs775017742, ExAC 0.002%). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002486532 SCV002790100 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-12 criteria provided, single submitter clinical testing

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