Submissions for variant NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)

gnomAD frequency: 0.00378  dbSNP: rs72650011

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172683	SCV000051751	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040102	SCV000063793	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing	p.His8848Tyr in exon 104 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (76/6614) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72650011).
GeneDx	RCV000040102	SCV000237054	benign	not specified	2016-08-23	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.
Genetic Services Laboratory, University of Chicago	RCV000040102	SCV000249250	uncertain significance	not specified	2014-06-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081687	SCV000286563	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040102	SCV000332661	likely benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172683	SCV000884767	benign	not provided	2023-10-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768893	SCV000900266	benign	Cardiomyopathy	2019-06-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000986941	SCV001136100	benign	Dilated cardiomyopathy 1G	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172683	SCV001153007	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BS1
Illumina Laboratory Services, Illumina	RCV000986941	SCV001292873	likely benign	Dilated cardiomyopathy 1G	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000040102	SCV001880239	benign	not specified	2021-02-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040102	SCV002571015	likely benign	not specified	2022-07-30	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000143966	SCV000188847	uncertain significance	Primary dilated cardiomyopathy	2013-09-27	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172683	SCV001742617	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172683	SCV001799896	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040102	SCV001923369	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172683	SCV001932983	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040102	SCV001953998	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172683	SCV001966658	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534882	SCV004749682	likely benign	TTN-related disorder	2020-03-13	no assertion criteria provided	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).