ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)

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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 RCV002908983 SCV003253527 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 984 of the RPGRIP1L protein (p.Gln984His). This variant is present in population databases (rs775144757, gnomAD 0.003%). 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: 2045896). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RPGRIP1L protein function with a negative predictive value of 80%. 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 RCV005010773 SCV005639912 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733540 SCV005365585 uncertain significance RPGRIP1L-related disorder 2024-03-27 no assertion criteria provided clinical testing The RPGRIP1L c.2952G>C variant is predicted to result in the amino acid substitution p.Gln984His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% 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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