ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs)

gnomAD frequency: 0.00001  dbSNP: rs1334044756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952679 SCV002202487 uncertain significance Dyskeratosis congenita 2022-07-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1431261). This sequence change creates a premature translational stop signal (p.Val49Leufs*14) in the TINF2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TINF2 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. 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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