ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) (rs111033257)

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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 RCV000036454 SCV000060109 likely pathogenic Rare genetic deafness 2012-04-30 criteria provided, single submitter clinical testing The Cys565Tyr variant (SLC26A4) has been reported in one individual with Pendred syndrome and one individual with nonsyndromic hearing loss with enlarged vestib ular aqueducts (EVA), both of whom carried a second SLC26A4 variant, and was abs ent in 192 control chromosomes (Van Hauwe 1998, Tsukamoto 2003). In addition, th is variant has been identified in one individual with SNHL and EVA by our labora tory, who also carried a second pathogenic SLC26A4 variant. Studies have shown t hat the Cys565Tyr variant does not appear to impact certain protein functions (C hoi 2009, Ishihara 2010). However, these in vitro assays may not accurately repr esent biological function or fully assess all functions of the protein. In summa ry, this variant is likely to be pathogenic, though additional studies are requi red to fully establish the pathogenicity of this variant.
Counsyl RCV000666339 SCV000790614 likely pathogenic Pendred syndrome 2017-03-30 criteria provided, single submitter clinical testing
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004646 SCV000994900 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only in vitro experiment

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