ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.569C>T (p.Ala190Val)

gnomAD frequency: 0.00007  dbSNP: rs781435225
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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 RCV002533389 SCV000770738 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334733 SCV001527661 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2018-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in literature, however detailed clinical information was not provided [PMID 28192371]
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001334733 SCV003928131 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-04-27 criteria provided, single submitter clinical testing The TERT c.569C>T (p.Ala190Val) missense change has a maximum subpopulation frequency of 0.015% 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 occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PMID: 27535533). This variant has not been reported in individuals with clinical features of 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.
GeneDx RCV003325507 SCV004031666 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in a cohort of individuals with germline heterozygous variants in TERT, TERC, PARN, or RTEL1 but additional information regarding the phenotype of this individual is not available (PMID: 28192371); This variant is associated with the following publications: (PMID: 28192371)

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