ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)

gnomAD frequency: 0.00005  dbSNP: rs764602705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002530163 SCV000650773 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256386 SCV002533152 uncertain significance Dyskeratosis congenita 2021-05-28 criteria provided, single submitter curation
GeneDx RCV002307542 SCV002601115 uncertain significance not provided 2024-09-12 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Published functional demonstrate no increase in oxidative DNA damage, ability to recruit TRF2 to telomeres, response to DNA damage and ability to induce apoptosis similar to wild-type, however also significantly increased reactive oxygen species (PMID: 38641551); This variant is associated with the following publications: (PMID: 38641551)
Ambry Genetics RCV002256386 SCV002611248 uncertain significance Dyskeratosis congenita 2022-02-28 criteria provided, single submitter clinical testing The p.T1101M variant (also known as c.3302C>T), located in coding exon 16 of the TERT gene, results from a C to T substitution at nucleotide position 3302. The threonine at codon 1101 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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