ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1446G>C (p.Leu482Phe)

gnomAD frequency: 0.00001  dbSNP: rs200541068
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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 RCV001931163 SCV002193689 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 482 of the RPGRIP1 protein (p.Leu482Phe). This variant is present in population databases (rs200541068, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1419338). 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 RPGRIP1 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.

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