Submissions for variant NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)

gnomAD frequency: 0.00026  dbSNP: rs369099681

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442226	SCV000515106	benign	not specified	2015-09-10	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	RCV000865804	SCV001006825	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000442226	SCV002051119	likely benign	not specified	2021-12-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840501	SCV002102010	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840502	SCV002102011	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840503	SCV002102012	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840500	SCV002102013	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530551	SCV004118821	uncertain significance	TTN-related disorder	2023-08-23	criteria provided, single submitter	clinical testing	The TTN c.25809G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to possibly create an acceptor site within the exon (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of African descent in gnomAD, which is likely too common to be a primary cause of an autosomal dominant disorder (http://gnomad.broadinstitute.org/variant/2-179580332-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV003422392	SCV004155251	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003422392	SCV004562116	likely benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing