ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr)

gnomAD frequency: 0.00001  dbSNP: rs751744677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670819 SCV000795723 uncertain significance Pendred syndrome 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV003228978 SCV003926436 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with sensorineural hearing loss, enlarged vestibular aqueduct, and Mondini malformation in published literature, however, a second SLC26A4 variant was not identified (Dai et al., 2008); This variant is associated with the following publications: (PMID: 19744334, 33199029, 19040761, 26252218, 27771369, 30842343)

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