Submissions for variant NM_001267550.2(TTN):c.1449C>T (p.Ala483=)

gnomAD frequency: 0.00011  dbSNP: rs141617218

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152526	SCV000201716	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala483Ala in exon 9 of TTN: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/7020 European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS; dbSNP rs141617218). Ala483Ala in exon 9 of TTN (rs141617218; allele fre quency = 3/7020) **
GeneDx	RCV000152526	SCV000535205	likely benign	not specified	2016-12-20	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.
Eurofins Ntd Llc (ga)	RCV000727211	SCV000706641	uncertain significance	not provided	2017-02-28	criteria provided, single submitter	clinical testing
Invitae	RCV001454113	SCV001657825	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152526	SCV002547643	likely benign	not specified	2022-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390330	SCV002700807	likely benign	Cardiovascular phenotype	2019-09-18	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.
PreventionGenetics, part of Exact Sciences	RCV003935282	SCV004756540	likely benign	TTN-related condition	2019-04-09	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	RCV000727211	SCV001932376	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727211	SCV001974913	likely benign	not provided		no assertion criteria provided	clinical testing