Submissions for variant NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)

gnomAD frequency: 0.00185  dbSNP: rs182126530

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000040668	SCV000051472	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040668	SCV000064359	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ile24612Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (18/3170) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). Ile24612Thr in exon 275 of TTN (allele frequency = 0.6%, 18/3170) **
Eurofins Ntd Llc (ga)	RCV000040668	SCV000228530	likely benign	not specified	2014-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000461664	SCV000237616	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362, 24033266)
Invitae	RCV001086543	SCV000555017	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620281	SCV000737342	likely benign	Cardiovascular phenotype	2018-12-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV000768913	SCV000900286	benign	Cardiomyopathy	2023-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000461664	SCV001152721	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040668	SCV004038597	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000461664	SCV001799049	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040668	SCV001919791	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000461664	SCV001965407	likely benign	not provided		no assertion criteria provided	clinical testing