ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly)

gnomAD frequency: 0.00009  dbSNP: rs193282093
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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 RCV001870979 SCV002136442 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 702 of the RPGRIP1L protein (p.Glu702Gly). This variant is present in population databases (rs193282093, gnomAD 0.06%). 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: 1370352). 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 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 RCV005006125 SCV005642077 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-06-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536393 SCV004709727 uncertain significance RPGRIP1L-related disorder 2024-05-08 no assertion criteria provided clinical testing The RPGRIP1L c.2105A>G variant is predicted to result in the amino acid substitution p.Glu702Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.

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