ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)

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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 RCV002927894 SCV003262429 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1301 of the RPGRIP1L protein (p.Ala1301Thr). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions.
PreventionGenetics, part of Exact Sciences RCV004536458 SCV004119003 uncertain significance RPGRIP1L-related disorder 2024-01-10 no assertion criteria provided clinical testing The RPGRIP1L c.3901G>A variant is predicted to result in the amino acid substitution p.Ala1301Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African 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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