ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61269del (p.Asp20424fs)

dbSNP: rs1060500420
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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 RCV000460718 SCV000542414 likely pathogenic Dilated cardiomyopathy 1G 2017-04-11 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 304 of the TTN mRNA (c.61269delA), causing a frameshift at codon 20424. This creates a premature translational stop signal (p.Asp20424Metfs*14) 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). For these reasons, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001377869 SCV001575315 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. 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). This sequence change deletes 1 nucleotide from exon 304 of the TTN mRNA (c.61269delA), causing a frameshift at codon 20424. This creates a premature translational stop signal (p.Asp20424Metfs*14) and is expected to result in an absent or disrupted protein product.

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