ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)

gnomAD frequency: 0.00146  dbSNP: rs189768015
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040591 SCV000064282 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Leu21878Leu in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and is not located within the splice consensus sequence. It has been identified in 0.2% (29/11544 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs189768015).
GeneDx RCV000040591 SCV000169358 benign not specified 2014-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000040591 SCV000333042 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV000472059 SCV000555084 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619669 SCV000736726 likely benign Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769948 SCV000901374 benign Cardiomyopathy 2017-08-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705690 SCV001471893 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040591 SCV001477162 benign not specified 2020-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040591 SCV001821341 benign not specified 2021-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705690 SCV001962327 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Genome-Nilou Lab RCV001839689 SCV002100230 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839690 SCV002100231 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839691 SCV002100232 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839688 SCV002100233 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000040591 SCV001923077 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705690 SCV001931920 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000040591 SCV001959368 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705690 SCV001966343 likely benign not provided no assertion criteria provided clinical testing

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