ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.869C>T (p.Ser290Phe)

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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 RCV004561363 SCV005048993 uncertain significance Dyskeratosis congenita 2024-02-22 criteria provided, single submitter clinical testing The p.S290F variant (also known as c.869C>T), located in coding exon 2 of the TERT gene, results from a C to T substitution at nucleotide position 869. The serine at codon 290 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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