Submissions for variant NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)

gnomAD frequency: 0.00203  dbSNP: rs72648245

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040786	SCV000064477	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	p.Asn28078Ser in exon 287 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (153/24006) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs72648245). BA1
Eurofins Ntd Llc (ga)	RCV000040786	SCV000228678	likely benign	not specified	2014-09-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000714118	SCV000237760	benign	not provided	2020-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV001082069	SCV000286912	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249101	SCV000318787	likely benign	Cardiovascular phenotype	2013-07-15	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.
Athena Diagnostics	RCV000714118	SCV000844793	likely benign	not provided	2017-10-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768864	SCV000900237	benign	Cardiomyopathy	2016-08-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839725	SCV002102188	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839726	SCV002102189	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839727	SCV002102190	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839724	SCV002102191	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040786	SCV004038620	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541192	SCV004759851	likely benign	TTN-related disorder	2019-12-04	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000714118	SCV001926677	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000714118	SCV001973877	likely benign	not provided		no assertion criteria provided	clinical testing