Submissions for variant NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)

gnomAD frequency: 0.00002  dbSNP: rs375627540

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213881	SCV000238304	benign	not specified	2016-08-24	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	RCV000213881	SCV000270987	likely benign	not specified	2015-04-29	criteria provided, single submitter	clinical testing	p.Gly6023Asp in exon 72 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (97/16584) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs375627540).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079554	SCV000286502	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000213881	SCV000335016	likely benign	not specified	2015-09-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400590	SCV000424322	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312467	SCV000424323	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351045	SCV000424324	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391021	SCV000424325	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297374	SCV000424326	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354605	SCV000424327	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713987	SCV000844643	likely benign	not provided	2018-02-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000213881	SCV002104043	likely benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150081	SCV003838037	benign	Cardiomyopathy	2021-11-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713987	SCV004155274	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
Clinical Genetics, Academic Medical Center	RCV000213881	SCV001922497	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713987	SCV001972095	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539729	SCV004781908	benign	TTN-related disorder	2023-12-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).