ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)

gnomAD frequency: 0.00001  dbSNP: rs1164823749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002561184 SCV001376678 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559926 SCV002695462 uncertain significance Dyskeratosis congenita 2022-10-11 criteria provided, single submitter clinical testing The p.P431L variant (also known as c.1292C>T), located in coding exon 2 of the TERT gene, results from a C to T substitution at nucleotide position 1292. The proline at codon 431 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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