ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg)

dbSNP: rs2151059471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001196 SCV002269788 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-11-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1486053). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 925 of the RPGRIP1L protein (p.Gly925Arg).

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