ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) (rs121908363)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154350 SCV000204013 pathogenic Rare genetic deafness 2016-03-29 criteria provided, single submitter clinical testing The p.Thr721Met variant in SLC26A4 has been reported in at least 7 individuals f rom 5 families with hearing loss and enlarged vestibular aqueduct (EVA) or Pendr ed Syndrome (Chen 2011, Ishihara 2010, Kahrizi 2009, Lopez-Bigas 2001, Usami 199 9). Individuals were either homozygous (2 families) or heterozygous with anoth er pathogenic variant (3 families). Compound heterozygous variants were confir med to be in trans in at least one family. In addition, a study showed that the Thr721Met variant impacts protein function (Ishihara 2010). This variant has b een identified in 5/11486 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs121908363); however, this freque ncy is low enough to be consistent with a recessive carrier frequency. In summa ry, this variant meets our criteria to be classified as pathogenic for autosomal recessive hearing loss with EVA or Pendred syndrome.
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000005096 SCV000611823 pathogenic Enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
OMIM RCV000005096 SCV000025272 pathogenic Enlarged vestibular aqueduct 2003-12-01 no assertion criteria provided literature only
OMIM RCV000005097 SCV000025273 pathogenic Pendred syndrome 2003-12-01 no assertion criteria provided literature only
Counsyl RCV000005097 SCV000221106 pathogenic Pendred syndrome 2016-05-24 no assertion criteria provided clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000005096 SCV000902361 likely pathogenic Enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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