Submissions for variant NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)

gnomAD frequency: 0.00570  dbSNP: rs33971253

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000041083	SCV000051695	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041083	SCV000064774	benign	not specified	2012-02-23	criteria provided, single submitter	clinical testing	Pro3752Leu in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence and has been identified in 1.1% (73/6658) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS; dbSNP rs33971253). Pro3752Leu in exon 45B of TTN (rs33971253; allele frequ ency = 1.1%, 73/6658) **
GeneDx	RCV000041083	SCV000169572	benign	not specified	2013-08-29	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.
Invitae	RCV001083374	SCV000262072	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041083	SCV000307151	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619761	SCV000735089	benign	Cardiovascular phenotype	2015-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000769091	SCV000900464	benign	Cardiomyopathy	2015-12-03	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852923	SCV000995667	benign	Hypertrophic cardiomyopathy; Supraventricular tachycardia	2019-03-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000206781	SCV001146315	benign	not provided	2019-07-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000206781	SCV001159544	benign	not provided	2023-11-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839785	SCV002100867	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839786	SCV002100868	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839787	SCV002100869	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839784	SCV002100870	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000206781	SCV002544178	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000206781	SCV001741456	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000206781	SCV001800404	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041083	SCV001917425	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041083	SCV001929109	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041083	SCV001957584	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041083	SCV001969843	benign	not specified		no assertion criteria provided	clinical testing