ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)

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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 RCV002576134 SCV002931804 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 477 of the RPGRIP1L protein (p.Leu477Pro). This variant is present in population databases (rs762123566, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
PreventionGenetics, part of Exact Sciences RCV004529150 SCV004107272 uncertain significance RPGRIP1L-related disorder 2024-02-02 no assertion criteria provided clinical testing The RPGRIP1L c.1430T>C variant is predicted to result in the amino acid substitution p.Leu477Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0072% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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