ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.479T>C (p.Val160Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004821824 SCV005512422 uncertain significance Dyskeratosis congenita 2024-08-19 criteria provided, single submitter clinical testing The p.V160A variant (also known as c.479T>C), located in coding exon 2 of the TERT gene, results from a T to C substitution at nucleotide position 479. The valine at codon 160 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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