ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1061+4_1061+7del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901271 SCV002159058 uncertain significance Dyskeratosis congenita 2024-10-25 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the TINF2 gene. It does not directly change the encoded amino acid sequence of the TINF2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs767558801, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1395836). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Sema4, Sema4 RCV001901271 SCV002536454 uncertain significance Dyskeratosis congenita 2021-07-03 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005006177 SCV005629721 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 2024-06-12 criteria provided, single submitter clinical testing

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