ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp)

gnomAD frequency: 0.00003  dbSNP: rs770098954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224509 SCV000280599 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001854773 SCV002281730 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 84 of the RPGRIP1L protein (p.Arg84Trp). This variant is present in population databases (rs770098954, 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: 235204). 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 expected to disrupt RPGRIP1L protein function. 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.
Natera, Inc. RCV001833232 SCV002089242 uncertain significance Familial aplasia of the vermis 2020-07-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732798 SCV005364414 uncertain significance RPGRIP1L-related disorder 2024-08-19 no assertion criteria provided clinical testing The RPGRIP1L c.250C>T variant is predicted to result in the amino acid substitution p.Arg84Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% 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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