Submissions for variant NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)

gnomAD frequency: 0.00005  dbSNP: rs372787601

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704919	SCV000237533	likely benign	not provided	2020-07-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29253866)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216196	SCV000272752	uncertain significance	not specified	2015-12-10	criteria provided, single submitter	clinical testing	The p.Asn22201Asp variant in TTN has been identified by our laboratory in 1 Cauc asian individual with DCM and AV block who also carried another likely pathogeni c variant in a different gene. This variant has been identified in 12/66562 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs372787601). Computational prediction tools and conservation analysis suggest that the p.Asn22201Asp variant may not impact the protein, thou gh this information is not predictive enough to rule out pathogenicity. In summa ry, the clinical significance of the p.Asn22201Asp variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000225993	SCV000286827	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2015-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336486	SCV002637640	likely benign	Cardiovascular phenotype	2019-08-22	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.
Revvity Omics, Revvity	RCV001704919	SCV003826564	uncertain significance	not provided	2022-01-10	criteria provided, single submitter	clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen	RCV000491424	SCV000298142	uncertain significance	Dilated cardiomyopathy 1S	2016-05-01	no assertion criteria provided	clinical testing