ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)

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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 RCV002643646 SCV003511775 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 297 of the RPGRIP1L protein (p.Arg297Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1L protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 RCV005011062 SCV005642140 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733596 SCV005363037 uncertain significance RPGRIP1L-related disorder 2024-09-27 no assertion criteria provided clinical testing The RPGRIP1L c.890G>A variant is predicted to result in the amino acid substitution p.Arg297Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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