ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)

gnomAD frequency: 0.00001  dbSNP: rs905516252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898104 SCV002159937 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1181 of the RPGRIP1L protein (p.Leu1181Ile). 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. ClinVar contains an entry for this variant (Variation ID: 1389850). 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. 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 RCV002482704 SCV002792009 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-10-29 criteria provided, single submitter clinical testing

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