ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2775+1G>T

dbSNP: rs1057346353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799128 SCV002042423 likely pathogenic Cardiomyopathy 2020-03-17 criteria provided, single submitter clinical testing
Invitae RCV002541257 SCV003351366 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-05-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1326923). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the Z band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822).
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001787308 SCV002029200 uncertain significance Tibial muscular dystrophy 2021-10-20 no assertion criteria provided clinical testing

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