Submissions for variant NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)

gnomAD frequency: 0.00004  dbSNP: rs397517604

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040324	SCV000064015	likely benign	not specified	2011-12-19	criteria provided, single submitter	clinical testing	Ala14593Ala in exon 221 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ala14593Ala in exon 221 of TTN (allele freq uency = n/a)
GeneDx	RCV001529434	SCV000730382	likely benign	not provided	2021-04-08	criteria provided, single submitter	clinical testing
Invitae	RCV000866428	SCV001007518	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444493	SCV002732902	likely benign	Cardiovascular phenotype	2020-08-03	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040324	SCV004029862	likely benign	not specified	2023-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529434	SCV004152393	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529434	SCV001742894	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040324	SCV001919859	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529434	SCV001968675	likely benign	not provided		no assertion criteria provided	clinical testing