ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)

dbSNP: rs1466647934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545046 SCV000642464 likely pathogenic Dilated cardiomyopathy 1G 2017-05-22 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 326 of the TTN mRNA (c.77147_77150delCTCT), causing a frameshift at codon 25716. This creates a premature translational stop signal (p.Ser25716*) 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.
Invitae RCV001378784 SCV001576437 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-10-29 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.77147_77150delCTCT), causing a frameshift at codon 25716. This creates a premature translational stop signal (p.Ser25716*) and is expected to result in an absent or disrupted protein product.

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