ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.909C>G (p.His303Gln)

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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 RCV004821863 SCV005514519 uncertain significance Dyskeratosis congenita 2024-12-02 criteria provided, single submitter clinical testing The p.H303Q variant (also known as c.909C>G), located in coding exon 2 of the TERT gene, results from a C to G substitution at nucleotide position 909. The histidine at codon 303 is replaced by glutamine, 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 variant remains unclear.

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