ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2626C>T (p.His876Tyr)

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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 RCV004559587 SCV002743127 uncertain significance Dyskeratosis congenita 2022-04-02 criteria provided, single submitter clinical testing The p.H876Y variant (also known as c.2626C>T), located in coding exon 10 of the TERT gene, results from a C to T substitution at nucleotide position 2626. The histidine at codon 876 is replaced by tyrosine, an amino acid with 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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