ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) (rs771898264)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223349 SCV000272731 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing p.Glu198del in exon 5 of TTN: This variant is not expected to have clinical sign ificance because it was detected in an unaffected parent of an individual with e arly onset DCM (this individual), and an alternate genetic explanation for the d isease was identified. In addition, this variant is not expected to alter the no rmal reading frame of the protein and the glutamic acid (Glu) residue at amino a cid position 198 of TTN is poorly conserved across most mammals and distant spec ies. The variant was also identified in 0.04% (11/30778) of South Asian (includi ng a homozygote individual) and 0.03% (8/24018) of African chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs749 520121). ACMG/AMP Criteria applied: BS2, BP4, BP5.
Invitae RCV000461262 SCV000542500 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726987 SCV000704714 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000726987 SCV000987530 likely benign not provided criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000726987 SCV001799598 uncertain significance not provided no assertion criteria provided clinical testing

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