ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1094T>C (p.Phe365Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771782 SCV005382529 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.1094T>C (p.Phe365Ser) in the TERT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Phenylalanine at position 365 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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