ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val)

gnomAD frequency: 0.00006  dbSNP: rs772129232
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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 RCV002545280 SCV003282590 uncertain significance not provided 2022-02-13 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 563 of the DMXL2 protein (p.Met563Val). This variant is present in population databases (rs772129232, 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Yale Center for Mendelian Genomics, Yale University RCV001849761 SCV002106794 uncertain significance Amenorrhea 2021-03-08 no assertion criteria provided literature only

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