ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003391159 SCV004101671 uncertain significance Hearing loss, autosomal dominant 71 2023-11-07 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 16 of the DMXL2 gene that results in the amino acid substitution of Phenylalanine for Leucine at codon 921 was detected . The p.Leu921Phe variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2) and topmed databases . The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) a and damaging by SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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