ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) (rs201677741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000400895 SCV000330201 pathogenic not provided 2016-02-26 criteria provided, single submitter clinical testing The Y312X pathogenic variant in the TINF2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y312X variant was not observed at any significant frequency in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret Y312X as a pathogenic variant.
Invitae RCV000634505 SCV000755821 uncertain significance Dyskeratosis congenita 2019-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr312*) in the TINF2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201677741, ExAC 0.06%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 280299). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TINF2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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