ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs)

dbSNP: rs1553562793
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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 RCV000538600 SCV000642472 likely pathogenic Dilated cardiomyopathy 1G 2017-01-24 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 326 of the TTN mRNA (c.85589_85592delAATA), causing a frameshift at codon 28530. This creates a premature translational stop signal (p.Lys28530Metfs*7) and is expected to result in a 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 RCV001379487 SCV001577298 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-15 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 4 nucleotides from exon 326 of the TTN mRNA (c.85589_85592delAATA), causing a frameshift at codon 28530. This creates a premature translational stop signal (p.Lys28530Metfs*7) and is expected to result in a disrupted protein product.

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