ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)

gnomAD frequency: 0.00001  dbSNP: rs1338012833
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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 RCV001351109 SCV001545548 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-30 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. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 767 of the RPGRIP1L protein (p.Gln767His). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1046539). 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.
Fulgent Genetics, Fulgent Genetics RCV002499703 SCV002806832 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825971 SCV002085697 uncertain significance Familial aplasia of the vermis 2021-04-16 no assertion criteria provided clinical testing

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