ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)

dbSNP: rs886043718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259741 SCV000341650 likely pathogenic not provided 2016-06-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170830 SCV001333450 likely pathogenic Cardiomyopathy 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV003765651 SCV004585923 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp17153Glufs*11) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TTN-related conditions (PMID: 29691892). ClinVar contains an entry for this variant (Variation ID: 287761). This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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