ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2009C>T (p.Ala670Val)

gnomAD frequency: 0.00004  dbSNP: rs767382450
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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 RCV002534823 SCV000946319 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV004588270 SCV005080023 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004789207 SCV005402340 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-05-15 criteria provided, single submitter clinical testing The TERT c.2009C>T (p.Ala670Val) missense change has a maximum subpopulation frequency of 0.0044% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but this prediction has not been confirmed by functional studies. This variant has not been reported in individuals with dyskeratosis congenita. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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