ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.7313C>T (p.Pro2438Leu)

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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 RCV002587819 SCV003489773 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2438 of the DMXL2 protein (p.Pro2438Leu). This variant is present in population databases (rs372032462, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DMXL2-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: "Probably Damaging"; 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 RCV004750278 SCV005349477 uncertain significance DMXL2-related disorder 2024-05-22 no assertion criteria provided clinical testing The DMXL2 c.7313C>T variant is predicted to result in the amino acid substitution p.Pro2438Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% 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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