ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.791-14G>C

gnomAD frequency: 0.00043  dbSNP: rs199699551
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Total submissions: 2
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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 RCV000221773 SCV000272576 uncertain significance not specified 2017-07-11 criteria provided, single submitter clinical testing The c.791-14G>C variant in TSPEAR has been previously reported by our laboratory in 1 individual with hearing loss, but a variant affecting the other copy of th e gene was not identified. This variant has been identified in 83/126028 Europea n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs199699551); however, this frequency is not high enough to ru le out a pathogenic role. This variant is located in the 3' splice region. Compu tational tools do not suggest an impact to splicing. However, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sig nificance of the c.791-14G>C variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057180 SCV002453448 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing

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