ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1919T>C (p.Val640Ala)

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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 RCV004821862 SCV005514516 uncertain significance Dyskeratosis congenita 2024-11-28 criteria provided, single submitter clinical testing The p.V640A variant (also known as c.1919T>C), located in coding exon 4 of the TERT gene, results from a T to C substitution at nucleotide position 1919. The valine at codon 640 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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