ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1132G>A (p.Val378Met)

gnomAD frequency: 0.00009  dbSNP: rs372860835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375198 SCV001571852 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing BP4_Supporting
GeneDx RCV001581108 SCV001818160 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing Identified in the heterozygous state without a second TECTA variant in a patient with hearing loss in published literature (Sloan-Heggen et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26969326)
Invitae RCV001581108 SCV002117957 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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