ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)

gnomAD frequency: 0.00007  dbSNP: rs564647937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537414 SCV000957597 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-22 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001250511 SCV001425302 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2020-03-05 criteria provided, single submitter clinical testing This TERT variant (rs564647937) is rare (<0.1%) in a large population dataset (gnomAD: 13/196362 total alleles; 0.007%; no homozygotes) and has not been reported in the literature, to our knowledge. A single submitter in ClinVar classifies c.2108C>T as a variant of uncertain clinical significance. Three bioinformatic tools queried predict that this substitution would be tolerated, and the proline residue at this position is not evolutionarily conserved across the species assessed. Due to insufficient evidence, we consider the clinical significance of c.2108C>T to be uncertain at this time.
Ambry Genetics RCV004559695 SCV002726943 uncertain significance Dyskeratosis congenita 2022-01-30 criteria provided, single submitter clinical testing The p.P703L variant (also known as c.2108C>T), located in coding exon 5 of the TERT gene, results from a C to T substitution at nucleotide position 2108. The proline at codon 703 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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