ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) (rs146269871)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222793 SCV000272436 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Ile539Thr variant in SLC26A4 has not been previously reported in individua ls with hearing loss, hearing loss with EVA, or Pendred syndrome. However, this variant was identified in 0.3% (27/10310) of African chromosomes by the Exome Ag gregation Consortium (ExAC,; dbSNP rs146269871). This variant is located in the second base of the exon. The 3' splice site of th is exon resembles the minor class of the splice consensus sequence, of which the second base of the exon is included. Computational prediction tools and conserv ation analyses do not provide strong support for or against an impact to splicin g or to the protein. In summary, the clinical significance of the p.Ile539Thr va riant is uncertain.
Invitae RCV000884664 SCV001028060 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000884664 SCV001145686 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277150 SCV001463978 uncertain significance Pendred syndrome 2019-11-11 no assertion criteria provided clinical testing

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