Submissions for variant NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr)

gnomAD frequency: 0.00089  dbSNP: rs140064945

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152449	SCV000201543	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Pro4349Thr in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (16/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs140064945).
GeneDx	RCV001704104	SCV000238111	likely benign	not provided	2019-10-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000152449	SCV000705114	likely benign	not specified	2017-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483321	SCV002794886	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	2021-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532704	SCV004724237	likely benign	TTN-related disorder	2022-03-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen	RCV001704104	SCV005042216	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BP4