Submissions for variant NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)

gnomAD frequency: 0.00011  dbSNP: rs376679796

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040751	SCV000064442	likely benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing	Asp26936Asn in exon 280 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Multiple mammals, inclu ding mouse, bushbaby, and horse, have an asparagine (Asp) at this position despi te high nearby amino acid conservation. In addition, computational analyses (Ali gnGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the prote in. This variant has been identified in 1/8260 European American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000040751	SCV000335636	likely benign	not specified	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618971	SCV000736514	likely benign	Cardiovascular phenotype	2016-02-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000643094	SCV000764781	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001668168	SCV001889775	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839721	SCV002102249	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839722	SCV002102251	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839723	SCV002102252	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839720	SCV002102253	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001668168	SCV005330249	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004534936	SCV004733995	likely benign	TTN-related disorder	2019-05-21	no assertion criteria provided	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).