ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)

gnomAD frequency: 0.00004  dbSNP: rs794727129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174776 SCV000226143 uncertain significance not provided 2014-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485128 SCV002777837 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516643 SCV003249902 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 531 of the RPGRIP1L protein (p.Glu531Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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. ClinVar contains an entry for this variant (Variation ID: 194412). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
PreventionGenetics, part of Exact Sciences RCV004732738 SCV005348042 uncertain significance RPGRIP1L-related disorder 2024-05-23 no assertion criteria provided clinical testing The RPGRIP1L c.1592A>G variant is predicted to result in the amino acid substitution p.Glu531Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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