ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.731C>A (p.Pro244His)

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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 RCV004821868 SCV005514526 uncertain significance Dyskeratosis congenita 2024-10-28 criteria provided, single submitter clinical testing The c.731C>A (p.P244H) alteration is located in exon 2 (coding exon 2) of the TERT gene. This alteration results from a C to A substitution at nucleotide position 731, causing the proline (P) at amino acid position 244 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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