ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224753 SCV003920611 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-03-30 criteria provided, single submitter clinical testing TTN NM_133378.4 exon 257 p.Tyr18850* (c.56548_56549insGAGTA): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:202456). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an insertion of 5 nucleotides and creates a premature stop at this codon which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene. Additionally, this variant is located within the A-band, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman 2012 PMID:22335739). In summary, this variant is classified as pathogenic.

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