ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1341+1del (rs397516417)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036439 SCV000060094 pathogenic Rare genetic deafness 2014-05-20 criteria provided, single submitter clinical testing The c.1341+1delG variant in SLC26A4 has been reported in 5 probands with DFNB4/P endred syndrome, and segregated with hearing loss in 7 affected relatives in 2 f amilies (Everett 1997, Shahin 2010, Sheffield 1996, Tekin 2003, LMM unpublished data). Four out of 5 probands were homozygous or compound heterozygous. This var iant occurs in the invariant region (+/- 1/2) of the splice consensus sequence a nd is predicted to cause altered splicing leading to an abnormal or absent prote in. In summary, the c.1341+1delG variant meets our criteria to be classified as pathogenic (http://www.partners.org/personalizedmedicince/LMM).
Hereditary Research Laboratory,Bethlehem University RCV000454189 SCV000538117 pathogenic Pendred syndrome 2016-06-04 no assertion criteria provided research Severe to Profound SNHL
Hereditary Research Laboratory,Bethlehem University RCV000454189 SCV000538120 pathogenic Pendred syndrome 2016-06-04 no assertion criteria provided research severe to profound w/endolymphatic sac

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