ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)

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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 RCV002786453 SCV003030538 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-10 criteria provided, single submitter clinical testing 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 C35"). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs763837182, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 67 of the RPGRIP1L protein (p.His67Leu). 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.
Ambry Genetics RCV004958773 SCV005488037 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.200A>T (p.H67L) alteration is located in exon 3 (coding exon 2) of the RPGRIP1L gene. This alteration results from a A to T substitution at nucleotide position 200, causing the histidine (H) at amino acid position 67 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733531 SCV005359237 uncertain significance RPGRIP1L-related disorder 2024-06-19 no assertion criteria provided clinical testing The RPGRIP1L c.200A>T variant is predicted to result in the amino acid substitution p.His67Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) 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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