ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter)

gnomAD frequency: 0.00002  dbSNP: rs760574657
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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 RCV000220688 SCV000271461 pathogenic Rare genetic deafness 2016-01-03 criteria provided, single submitter clinical testing The p.Arg1993X variant in TECTA has not been previously reported in individuals with hearing loss and has been identified in 2/11544 Latino chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76057 4657). Although this variant has been seen in the general population, its freque ncy is low enough to be consistent with a recessive carrier frequency. This nons ense variant leads to a premature termination codon at position 1993 which is pr edicted to lead to a truncated or absent protein. Loss of function of the TECTA gene is an established disease mechanism in autosomal recessive hearing loss. In addition, some variants that result in a truncated protein may have the potenti al to cause hearing loss inherited in an autosomal dominant pattern (Colin 2008, Hildebrand 2011). However, there is insufficient evidence to predict whether th e p.Arg1993X variant can also lead to dominantly inherited hearing loss. In summ ary, this variant meets our criteria to be classified as pathogenic for hearing loss in an autosomal recessive manner based on the predicted impact of the varia nt on the protein.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270081 SCV001448871 pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001270081 SCV001999734 uncertain significance not provided 2021-10-07 criteria provided, single submitter clinical testing Reported in a patient in published literature (Hou et al., 2020); however, clinical data is limited; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21520338, 18575463, 31589614, 31980526)

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