Submissions for variant NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)

gnomAD frequency: 0.00059  dbSNP: rs72648216

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000251054	SCV000320402	likely benign	Cardiovascular phenotype	2015-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000425436	SCV000515174	benign	not specified	2015-12-04	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	RCV000461153	SCV000555011	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000425436	SCV000616155	benign	not specified	2016-12-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000425436	SCV000700997	likely benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000425436	SCV000710943	likely benign	not specified	2016-08-14	criteria provided, single submitter	clinical testing	p.Gly25031Gly in Exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 0.3% (26/9798) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs72648216).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425436	SCV001519417	likely benign	not specified	2021-03-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840453	SCV002102352	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840454	SCV002102353	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840455	SCV002102354	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840452	SCV002102355	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955409	SCV004784153	likely benign	TTN-related condition	2021-06-15	criteria provided, single submitter	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).