Submissions for variant NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr)

gnomAD frequency: 0.00001  dbSNP: rs727503457

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151972	SCV000200518	uncertain significance	not specified	2017-04-03	criteria provided, single submitter	clinical testing	The p.Ala567Thr variant in TECTA has been reported in one individual with hearin g loss by our laboratory; however, an alternate explanation for their hearing lo ss was identified. This variant was absent from large population studies. Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala567Thr variant is uncertain.
GeneDx	RCV001556255	SCV001777800	uncertain significance	not provided	2023-03-14	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (gnomAD); however, it has been identified at GeneDx in multiple individuals reported to be of Qatari background, including one homozygous occurrence, undergoing testing for a variety of indications; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9590290, 21520338, 31554319)
Fulgent Genetics, Fulgent Genetics	RCV002483313	SCV002775941	uncertain significance	Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21	2021-07-15	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV001556255	SCV005198769	uncertain significance	not provided	2023-04-20	criteria provided, single submitter	clinical testing