Submissions for variant NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)

gnomAD frequency: 0.00282  dbSNP: rs181104321

Total submissions: 25

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172618	SCV000051286	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040808	SCV000064499	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing	p.Arg28781His in exon 288 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.5% (98/6608) of Finnish chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181104321).
GeneDx	RCV000172618	SCV000237783	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362, 23396983)
Invitae	RCV001081587	SCV000286921	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000172618	SCV001146539	benign	not provided	2019-06-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001129392	SCV001288915	benign	Tibial muscular dystrophy	2017-10-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001129393	SCV001288916	likely benign	Early-onset myopathy with fatal cardiomyopathy	2017-10-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001129394	SCV001288917	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2017-10-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001136388	SCV001296223	benign	Dilated cardiomyopathy 1G	2017-10-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001136389	SCV001296224	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171241	SCV001333945	benign	Cardiomyopathy	2018-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001136389	SCV002102147	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001129394	SCV002102148	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001129393	SCV002102149	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001129392	SCV002102152	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172618	SCV002496570	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TTN: BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040808	SCV002500359	likely benign	not specified	2022-03-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362651	SCV002663339	benign	Cardiovascular phenotype	2018-03-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172618	SCV003800141	likely benign	not provided	2022-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534940	SCV004721433	benign	TTN-related disorder	2022-03-21	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172618	SCV001740296	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040808	SCV001919662	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172618	SCV001927607	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172618	SCV001955336	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000040808	SCV001963980	benign	not specified		no assertion criteria provided	clinical testing