ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)

dbSNP: rs1566366182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698064 SCV000826705 pathogenic Dyskeratosis congenita 2018-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu364Profs*9) in the TINF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TINF2-related disease. Loss-of-function variants in TINF2 are known to be pathogenic (PMID: 21199492). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003140107 SCV003825365 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing

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