ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.101A>C (p.Gln34Pro)

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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 RCV004561376 SCV005049023 uncertain significance Dyskeratosis congenita 2024-02-13 criteria provided, single submitter clinical testing The p.Q34P variant (also known as c.101A>C), located in coding exon 1 of the TERT gene, results from an A to C substitution at nucleotide position 101. The glutamine at codon 34 is replaced by proline, 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 alteration remains unclear.

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