ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)

dbSNP: rs565245381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044181 SCV002112286 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 34 of the RPGRIP1L protein (p.Arg34Gly). This variant is present in population databases (rs565245381, gnomAD 0.05%). 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: 1348157). 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: "Benign"; Align-GVGD: "Class C0"). 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 RCV002482418 SCV002791101 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536364 SCV004717321 uncertain significance RPGRIP1L-related disorder 2024-01-29 no assertion criteria provided clinical testing The RPGRIP1L c.100C>G variant is predicted to result in the amino acid substitution p.Arg34Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.054% of alleles in individuals of East Asian 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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