ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.619G>C (p.Val207Leu)

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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 RCV004561348 SCV005048959 uncertain significance Dyskeratosis congenita 2024-02-28 criteria provided, single submitter clinical testing The p.V207L variant (also known as c.619G>C), located in coding exon 2 of the TERT gene, results from a G to C substitution at nucleotide position 619. The valine at codon 207 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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