Submissions for variant NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)

gnomAD frequency: 0.00006  dbSNP: rs561739832

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000184114	SCV000236690	benign	not specified	2014-10-08	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000184114	SCV000271107	likely benign	not specified	2016-01-11	criteria provided, single submitter	clinical testing	p.Tyr28580Tyr variant in exon 288 of TTN: This variant is not expected to have c linical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6/66728 European and 16/16512 South Asian chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs561739832).
Eurofins Ntd Llc (ga)	RCV000184114	SCV000334605	likely benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Invitae	RCV000555860	SCV000643911	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000184114	SCV002051414	likely benign	not specified	2021-12-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840275	SCV002102161	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840276	SCV002102163	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840277	SCV002102164	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840274	SCV002102165	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362948	SCV002664495	likely benign	Cardiovascular phenotype	2019-10-24	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699225	SCV001926722	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699225	SCV001973441	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000184114	SCV001979234	benign	not specified		no assertion criteria provided	clinical testing