ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2967C>A (p.His989Gln)

gnomAD frequency: 0.00007  dbSNP: rs200821009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606882 SCV000712609 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.His989Gln var iant in TECTA has been reported in 1 Japanese family with hearing loss; however, the hearing loss was likely due to a variant in a different gene (Ishikawa 2014 ). This variant has been identified in 0.2% of East Asian chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200821 009). Computational prediction tools and conservation analysis suggest that the p.His989Gln variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, while the clinical signific ance of the p.His989Gln variant is uncertain, these data suggest that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062139 SCV002323496 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
GeneDx RCV002062139 SCV002538779 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing Identified in patients with sensorineural hearing loss in published literature, however, the hearing loss may have been due to a variant in a different gene in all cases (PMID: 24655070, 33924653); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24655070, 33924653, 21520338, 31554319, 9590290)

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