ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.5017A>G (p.Met1673Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105092 SCV003783862 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1673 of the DMXL2 protein (p.Met1673Val). This variant is present in population databases (rs764505709, gnomAD 0.007%). This missense change has been observed in individual(s) with congenital heart disease (PMID: 32368696). 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.

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