ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.7555G>A (p.Ala2519Thr)

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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 RCV003073938 SCV003447966 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DMXL2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2519 of the DMXL2 protein (p.Ala2519Thr).
PreventionGenetics, part of Exact Sciences RCV004750254 SCV005345493 uncertain significance DMXL2-related disorder 2024-06-28 no assertion criteria provided clinical testing The DMXL2 c.7555G>A variant is predicted to result in the amino acid substitution p.Ala2519Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% 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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