ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)

gnomAD frequency: 0.00001  dbSNP: rs768030202
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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 RCV001884964 SCV002162105 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 860 of the RPGRIP1L protein (p.Ser860Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs768030202, ExAC 0.003%). This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. 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 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.
Fulgent Genetics, Fulgent Genetics RCV002478287 SCV002775222 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733401 SCV005342170 uncertain significance RPGRIP1L-related disorder 2024-07-25 no assertion criteria provided clinical testing The RPGRIP1L c.2579C>G variant is predicted to result in the amino acid substitution p.Ser860Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% 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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