ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys)

gnomAD frequency: 0.00028  dbSNP: rs150512674
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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 RCV000610403 SCV000711206 uncertain significance not specified 2018-01-30 criteria provided, single submitter clinical testing The p.Glu1035Lys variant in TECTA has not been previously reported in individual s with hearing loss, but has been identified in 0.07% (17/24016) of African chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs150512674). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses do not provide strong evidence for or against pathogenicity. In summary, the clinical significance of the p.Gl u1035Lys variant is uncertain. ACMG/AMP Criteria applied: none.
Labcorp Genetics (formerly Invitae), Labcorp RCV003565433 SCV004319254 benign not provided 2022-10-28 criteria provided, single submitter clinical testing

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