ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.1027A>G

dbSNP: rs727504555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155719 SCV000205429 likely pathogenic Rare genetic deafness 2013-08-08 criteria provided, single submitter clinical testing The 1027A>G variant in MTRNR1 has been reported in five Chinese individuals with severe to profound hearing loss (four of whom were exposed to aminoglycosides), and the variant was absent from 449 ethnically matched controls (Shen 2011, Lu 2010). The variant segregated with disease in two maternal relatives (consistent with a mitochondrial inheritance pattern) of an additional Chinese proband with severe hearing loss who was not exposed to aminoglycosides (Shen 2011). This v ariant has not been reported in the Human Mitochondrial Genome Database, which i ncludes a total of 2704 mitochondrial genomes of which 52 are from Chinese indiv iduals (www.mtdb.igp.uu.se). In summary, this variant is likely pathogenic based on the observation of the variant in individuals with hearing loss, though addi tional studies are required to fully establish its clinical significance.

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