ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr)

dbSNP: rs778580507
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Total submissions: 2
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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 RCV001225312 SCV001370541 uncertain significance Hearing loss, autosomal dominant 71 2020-04-22 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 24 of the DMXL2 gene that results in the amino acid substitution of Threonine for Alanine at codon 2083 was detected. The observed variant c.6247G>A (p.Ala2083Thr) has not been reported in the 1000 genomes and has a minor allele frequency of 0.007% in the ExAC database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Invitae RCV003770262 SCV004641223 likely benign not provided 2023-11-19 criteria provided, single submitter clinical testing

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