ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1264G>C (p.Ala422Pro)

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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 RCV004559442 SCV002680401 uncertain significance Dyskeratosis congenita 2022-01-31 criteria provided, single submitter clinical testing The p.A422P variant (also known as c.1264G>C), located in coding exon 2 of the TERT gene, results from a G to C substitution at nucleotide position 1264. The alanine at codon 422 is replaced by proline, 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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