ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr)

dbSNP: rs762612501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089556 SCV001244793 uncertain significance Autosomal dominant nonsyndromic hearing loss 12 2017-12-28 criteria provided, single submitter clinical testing A heterozygous missense variant NM_005422.2(TECTA):c.1796G>C, has been identified in exon 8of 23 of the TECTA gene.This substitution is predicted to create a minor amino acid change from serine to threonine at amino acid position 599, NP_005413.2(TECTA):p.(Ser599Thr).The serine at this position has low conservation (100 vertebrates, UCSC). In silico software predicts this variant to be benign (Polyphen, SIFT, CADD, Mutation Taster). It is situated in a trypsin inhibitor-like, cystein rich domain.This variant has not been previously reported, but has been observed in a population database at a frequency of 0.0004% (ExAC, GnomAD). Subsequent analysis of parental samples indicated this variant was maternally inherited. Based on current information, this variant has been classified as a VUS with LOW clinical significance.

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