ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103360del (p.Glu34454fs) (rs760768093)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415229 SCV000492943 likely pathogenic Limb-girdle muscular dystrophy; Muscular dystrophy; Waddling gait; Proximal lower limb amyotrophy; Decreased patellar reflex 2015-02-04 criteria provided, single submitter clinical testing
Invitae RCV000551103 SCV000639027 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu34454Asnfs*3) in the TTN gene. It is expected to result in a disrupted protein product. This variant is present in population databases (rs760768093, ExAC 0.003%). This variant has not been reported in the literature in individuals with TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 374145). This variant is found in the M-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the M-band of TTN have been previously reported in patients affected with recessive forms of myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473). Heterozygous truncating variants in the M-band of this gene are not currently associated with cardiovascular manifestations. 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.
Blueprint Genetics RCV000788396 SCV000927486 likely pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing

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