ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala)

dbSNP: rs1963404223
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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 RCV002013370 SCV002296976 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 1312 of the RPGRIP1L protein (p.Asp1312Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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 C0"). 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 RCV004529083 SCV004106577 uncertain significance RPGRIP1L-related disorder 2022-10-25 criteria provided, single submitter clinical testing The RPGRIP1L c.3935A>C variant is predicted to result in the amino acid substitution p.Asp1312Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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