ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002705654 SCV002998632 uncertain significance not provided 2022-04-19 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. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2767 of the DMXL2 protein (p.Val2767Ile). This variant is present in population databases (no rsID available, gnomAD 0.1%). 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").
Ambry Genetics RCV002705655 SCV003749824 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.8299G>A (p.V2767I) alteration is located in exon 37 (coding exon 37) of the DMXL2 gene. This alteration results from a G to A substitution at nucleotide position 8299, causing the valine (V) at amino acid position 2767 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Wuerzburg RCV003776835 SCV004697362 uncertain significance Hearing loss, autosomal dominant 71 no assertion criteria provided clinical testing

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