ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1912T>C (p.Tyr638His)

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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 RCV004561402 SCV005049083 uncertain significance Dyskeratosis congenita 2023-11-16 criteria provided, single submitter clinical testing The p.Y638H variant (also known as c.1912T>C), located in coding exon 4 of the TERT gene, results from a T to C substitution at nucleotide position 1912. The tyrosine at codon 638 is replaced by histidine, 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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