Submissions for variant NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)

gnomAD frequency: 0.00016  dbSNP: rs367958537

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001731674	SCV000515126	likely benign	not provided	2021-09-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918)
Invitae	RCV000470667	SCV000555459	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000422837	SCV000710959	benign	not specified	2017-08-10	criteria provided, single submitter	clinical testing	p.Pro10937Pro in exon 168 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in (0.4%) 156/31978 La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gmomad.broad institute.org; dbSNP rs367958537).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000422837	SCV001337708	benign	not specified	2020-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840513	SCV002101200	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840514	SCV002101201	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840515	SCV002101202	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840512	SCV002101204	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379306	SCV002692928	likely benign	Cardiovascular phenotype	2018-07-16	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.
Fulgent Genetics, Fulgent Genetics	RCV002502486	SCV002806679	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001731674	SCV004152436	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TTN: BP4