ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1939T>C (rs138527651)

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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 RCV000221167 SCV000271466 pathogenic Rare genetic deafness 2015-08-10 criteria provided, single submitter clinical testing The p.Ser647Pro variant in TMC1 has been reported in >10 Moroccan Jewish individ uals with hearing loss and segregated with disease in 8 affected relatives from 5 families (Brownstein 2011). All of these individuals were homozygous or compou nd heterozygous and all unaffected family members were either heterozygous only or wild-type at this position. The variant was also identified in 16/282 (5.6%) control individuals of Moroccan Jewish ancestry, all of whom were heterozygous f or the variant, which suggests that this variant represents a founder mutation f or hearing loss in this population (Brownstein 2011). In summary, this variant m eets our criteria to be classified as pathogenic for hearing loss in an autosoma l recessive manner based on segregation studies and its co-occurrence with a sec ond pathogenic TMC1 variant in many affected, unrelated individuals.
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV000225028 SCV000282004 pathogenic Deafness, autosomal recessive 7 2016-02-19 no assertion criteria provided research Congenital, profound HL

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