ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)

dbSNP: rs1064792916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463054 SCV000542944 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-09-23 criteria provided, single submitter clinical testing This sequence change deletes 14 nucleotides and inserts 1 nucleotide in exon 326 of the TTN mRNA (c.86290_86303delinsA), causing a frameshift at codon 28764. This creates a premature translational stop signal (p.Leu28764Metfs*7) and is expected to result in an absent or disrupted protein product. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). ClinVar contains an entry for this variant (Variation ID: 405044). For these reasons, this variant has been classified as Likely Pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798827 SCV002043026 likely pathogenic Cardiomyopathy 2021-04-07 criteria provided, single submitter clinical testing

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