ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met)

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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 RCV003070354 SCV003475828 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 488 of the DMXL2 protein (p.Thr488Met). This variant is present in population databases (rs145006217, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. 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 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.
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584993 SCV005073745 likely pathogenic Hearing loss, autosomal dominant 71 2024-05-07 criteria provided, single submitter research A rare variant predicted to be deleterious by all prediction programs in a known deafness dominant gene

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