Submissions for variant NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)

gnomAD frequency: 0.00001  dbSNP: rs373527654

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040598	SCV000064289	uncertain significance	not specified	2012-04-11	criteria provided, single submitter	clinical testing	The Asn22275Asp variant (TTN) has not been previously reported nor previously id entified by our laboratory. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, and SIFT) do not provide strong support for or a gainst an impact to the protein. Additional information is needed to assess the clinical significance of this variant.
Eurofins Ntd Llc (ga)	RCV000724394	SCV000228537	uncertain significance	not provided	2014-11-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000724394	SCV000237534	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534367	SCV000643652	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621675	SCV000735262	likely benign	Cardiovascular phenotype	2020-03-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852812	SCV000995541	likely benign	Ventricular tachycardia	2019-04-01	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293173	SCV001434170	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research
Revvity Omics, Revvity	RCV000724394	SCV003818515	uncertain significance	not provided	2024-01-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486596	SCV004240107	likely benign	Cardiomyopathy	2023-02-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724394	SCV001809175	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000724394	SCV001919772	uncertain significance	not provided		no assertion criteria provided	clinical testing