ClinVar Miner

Submissions for variant NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) (rs137853185)

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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 RCV000603810 SCV000731644 pathogenic Rare genetic deafness 2018-08-09 criteria provided, single submitter clinical testing The p.Arg81Gln variant in LRTOMT has been reported in 16 North African (Tunisian and Moroccan) probands with hearing loss, and segregated with hearing loss in > 20 family members, all of whom were homozygous for the variant (Ahmed 2008, Char if 2008). The variant was detected in 5/430 (1.2%) ethnically matched control ch romosomes, however its frequency in the probands (13.8%, 32/232 chromosomes) is significantly higher, which supports a causative role for the variant, and sugge sts that the variant may represent a founder mutation in these populations. In a ddition, computational prediction tools and conservation analyses suggest that t his variant may impact the protein. The variant has also been identified in 3/57 674 European chromosomes by the genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org/). In summary, this variant meets criteria to be classifie d as pathogenic for hearing loss in an autosomal recessive manner based upon seg regation studies and enrichment in cases. ACMG/AMP criteria applied: PS4, PP1_St rong, PP3.
OMIM RCV000000573 SCV000020722 pathogenic Deafness, autosomal recessive 63 2008-11-01 no assertion criteria provided literature only

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