ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.4665del (p.Ile1556fs)

gnomAD frequency: 0.00001  dbSNP: rs764570434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570433 SCV001794725 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing Frameshift 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; Identified by a next-generation sequencing panel in a proband with sporadic congenital mild-to-moderate bilateral hearing loss in published literature (Sloan-Heggen et al., 2016) who also harbored a missense variant in TECTA, the phase of which was unknown; This variant is associated with the following publications: (PMID: 26969326)
Labcorp Genetics (formerly Invitae), Labcorp RCV001570433 SCV003440424 pathogenic not provided 2022-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1204164). This sequence change creates a premature translational stop signal (p.Ile1556Serfs*9) in the TECTA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TECTA are known to be pathogenic (PMID: 11087000, 12746400, 17431902, 24130743). This variant is present in population databases (rs764570434, gnomAD 0.0008%). This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness (PMID: 26969326).

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