ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.307C>G (p.Leu103Val)

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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 RCV004561466 SCV005049206 uncertain significance Dyskeratosis congenita 2023-12-02 criteria provided, single submitter clinical testing The p.L103V variant (also known as c.307C>G), located in coding exon 2 of the TERT gene, results from a C to G substitution at nucleotide position 307. The leucine at codon 103 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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