ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.8218C>T (p.Arg2740Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004976987 SCV005571460 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.8155C>T (p.R2719C) alteration is located in exon 36 (coding exon 36) of the DMXL2 gene. This alteration results from a C to T substitution at nucleotide position 8155, causing the arginine (R) at amino acid position 2719 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110194 SCV005824769 uncertain significance not provided 2024-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2719 of the DMXL2 protein (p.Arg2719Cys). This variant is present in population databases (rs758537533, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DMXL2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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