ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1190T>G (p.Leu397Arg)

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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 RCV004821833 SCV005512439 uncertain significance Dyskeratosis congenita 2024-09-16 criteria provided, single submitter clinical testing The p.L397R variant (also known as c.1190T>G), located in coding exon 2 of the TERT gene, results from a T to G substitution at nucleotide position 1190. The leucine at codon 397 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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