ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1280C>T (p.Ala427Val)

dbSNP: rs2126685035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562801 SCV002223477 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TERT-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with valine at codon 427 of the TERT protein (p.Ala427Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TERT protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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