ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)

dbSNP: rs878854335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228009 SCV000286836 pathogenic Dilated cardiomyopathy 1G 2016-03-08 criteria provided, single submitter clinical testing This sequence change inserts 23 nucleotides in exon 326 of the TTN mRNA (c.76179_76180ins23), causing a frameshift at codon 25394. This creates a premature translational stop signal (p.Ser25394Asnfs*30) and is expected to result in an absent or disrupted protein product. This variant is found in the A-band of this gene. Truncating variants in the A-band of TTN are likely pathogenic (PMID: 25589632). This particular variant has been already found in an individual with personal and family history of dilated cardiomyopathy (Invitae database). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000624343 SCV000740474 pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing

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