ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2402C>T (p.Ala801Val)

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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 RCV003791146 SCV004584508 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-06-28 criteria provided, single submitter clinical testing 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. 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 expected to disrupt TERT protein function. This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 801 of the TERT protein (p.Ala801Val).
Ambry Genetics RCV004559004 SCV005049140 uncertain significance Dyskeratosis congenita 2023-03-19 criteria provided, single submitter clinical testing The p.A801V variant (also known as c.2402C>T), located in coding exon 8 of the TERT gene, results from a C to T substitution at nucleotide position 2402. The alanine at codon 801 is replaced by valine, 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.
Baylor Genetics RCV004573325 SCV005052982 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-12-27 criteria provided, single submitter clinical testing

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