ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) (rs201437752)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172703 SCV000051480 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154998 SCV000204680 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing p.Val4012Met in exon 45B in TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 5 mammals (bushbaby, squirrel, hedgehog, aardvark, and Tasmanian devil) ha ve a methionine (Met) at this position despite amino acid conservation at nearby positions. It has been identified in 0.1% (93/66496) of European chromosomes, i ncluding 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs201437752).
GeneDx RCV000172703 SCV000238180 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172703 SCV000336234 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621842 SCV000735760 likely benign Cardiovascular phenotype 2018-08-23 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852922 SCV000995664 likely benign Primary dilated cardiomyopathy; Cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Invitae RCV001085765 SCV001001863 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172703 SCV001153098 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000154998 SCV001880209 benign not specified 2020-10-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172703 SCV001743372 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000172703 SCV001919448 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172703 SCV001928389 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000154998 SCV001956911 benign not specified no assertion criteria provided clinical testing

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