ClinVar Miner

Submissions for variant NM_001145308.4(LRTOMT):c.358+4A>C (rs545947177)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211724 SCV000206309 likely pathogenic Rare genetic deafness 2014-07-01 criteria provided, single submitter clinical testing The 358+4A>C variant in LRTOMT has been reported in a Turkish family with hearin g loss (Ahmed 2008, Kalay 2007), in which affected family members were homozygou s for this variant. In addition, the variant is absent in 176 race matched chrom osomes (Ahmed 2008) and from large population studies. This variant is located i n the 5' splice region and functional studies have shown that the variant result s in exon-skipping and leads to a frameshift and a premature stop codon (Ahmed 2 008). Although these findings suggest that loss of function variants in LRTOMT a re causative for hearing loss, the exact mechanism of disease for LRTOMT related hearing loss has not been established. In summary, although additional studies are required to fully establish its clinical significance, this variant is likel y pathogenic.
OMIM RCV000156590 SCV000020721 pathogenic Deafness, autosomal recessive 63 2008-11-01 no assertion criteria provided literature only

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