ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)

gnomAD frequency: 0.00004  dbSNP: rs779401654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490363 SCV000267522 uncertain significance Autosomal dominant nonsyndromic hearing loss 12 2016-03-18 criteria provided, single submitter reference population
Eurofins Ntd Llc (ga) RCV000728512 SCV000856095 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000728512 SCV002097435 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Reported in unrelated individuals with hearing loss in published literature (Hildebrand et al., 2011; Yasukawa et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31554319, 21520338, 9590290)
Labcorp Genetics (formerly Invitae), Labcorp RCV000728512 SCV003441184 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing

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