Submissions for variant NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)

gnomAD frequency: 0.00187  dbSNP: rs199859344

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040716	SCV000064407	likely benign	not specified	2012-04-11	criteria provided, single submitter	clinical testing	Lys25996Ile in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (14/3022) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/) Lys25996Ile in exon 275 of TTN (allele frequenc y = 0.46%, 14/3022) **
Eurofins Ntd Llc (ga)	RCV000040716	SCV000203680	likely benign	not specified	2017-02-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000040716	SCV000237665	benign	not specified	2015-10-29	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.
Invitae	RCV001083745	SCV000555154	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000456289	SCV001146518	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000456289	SCV001477828	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839713	SCV002102308	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839714	SCV002102309	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839715	SCV002102310	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839712	SCV002102311	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040716	SCV002547663	likely benign	not specified	2022-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354206	SCV002649897	likely benign	Cardiovascular phenotype	2018-05-09	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.