ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) (rs139512154)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040202 SCV000063893 benign not specified 2012-11-27 criteria provided, single submitter clinical testing Ile10816_Glu10821del in intron 164 of TTN: This variant is not expected to have clinical significance because it has been identified in 11.0% (21/192) of Luhya (Kenyan) chromosomes from a broad population by the 1000 Genomes project (dbSNP rs139512154).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040202 SCV000114385 benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001719768 SCV000236638 benign not provided 2018-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000040202 SCV000249255 benign not specified 2013-12-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040202 SCV000315481 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249627 SCV000318455 benign Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000464752 SCV000555092 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000040202 SCV000740475 likely benign not specified 2016-11-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770050 SCV000901476 benign Cardiomyopathy 2015-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040202 SCV001361742 benign not specified 2019-11-18 criteria provided, single submitter clinical testing Variant summary: TTN c.32447_32464del18 (p.Ile10816_Glu10821del) results in an in-frame deletion that is predicted to remove six amino acids from the encoded protein. The variant allele was found at a frequency of 0.01 in 223830 control chromosomes in the gnomAD database, including 33 homozygotes. The observed variant frequency is approximately 17 fold the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. Five ClinVar submitters (evaluation after 2014) have cited the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287713 SCV001474428 benign none provided 2020-08-23 criteria provided, single submitter clinical testing

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