ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) (rs111033241)

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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 RCV000036487 SCV000060142 pathogenic Rare genetic deafness 2015-11-08 criteria provided, single submitter clinical testing The 294_298delCACGC variant is predicted to cause a frameshift, which alters th e protein?s amino acid sequence beginning at position 99 and leads to a prematur e termination codon 81 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. It was also identified in a patient o f Asian descent with hearing loss and bilateral temporal bone abnormalities and a second likely pathogenic variant c.706C>G (p.Leu236Val).
Counsyl RCV000412115 SCV000487271 likely pathogenic Pendred syndrome 2016-11-04 no assertion criteria provided clinical testing

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