ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.2669A>T (p.Glu890Val)

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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 RCV002646487 SCV002972072 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 890 of the DMXL2 protein (p.Glu890Val). This variant is present in population databases (no rsID available, 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 disruptive. 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.
Ambry Genetics RCV003269225 SCV003969283 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.2669A>T (p.E890V) alteration is located in exon 16 (coding exon 16) of the DMXL2 gene. This alteration results from a A to T substitution at nucleotide position 2669, causing the glutamic acid (E) at amino acid position 890 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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