ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) (rs573843615)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226470 SCV000286409 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727747 SCV000605505 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing The p.Ser32604del variant (rs573843615) has not been reported in the medical literature nor has it been previously identified in our laboratory; however, it is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 180582). It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish Europeans of 0.056% (identified in 71 out of 126,608 chromosomes). This variant is an in-frame deletion of a single amino acid in a non-repeat region of TTN protein, and the consequences on protein structure/function are not predictable. Thus, based on the available information, the clinical significance of the p.Ser32604del variant cannot be determined with certainty.
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584782 SCV000692513 likely benign Familial hypertrophic cardiomyopathy 1 2017-03-15 criteria provided, single submitter research The TTN Ser35172del is an in-frame deletion. This variant is located in the M-band where truncating variants have been associated with DCM. TTN Ser35172del has been observed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) at a frequency of 0.0003. We have identified this variant in an HCM case. An additional variant (MYH7 Arg652Gly) was also identified in this individual which is sufficient to explain disease. Given the limited understanding of TTN in-frame deletions particularly in HCM cases, the higher than expected frequency in ExAC, and that another possibly disease-causing variant has been identified in our case, we have classified this as a likely benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727747 SCV000855124 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157578 SCV000207324 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-08-28 no assertion criteria provided clinical testing

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