ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) (rs184740744)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251069 SCV000318567 benign Cardiovascular phenotype 2013-04-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039862 SCV000615996 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039862 SCV000334474 benign not specified 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000039862 SCV000238205 benign not specified 2016-02-18 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 RCV000118734 SCV000153171 likely benign not provided 2015-02-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280728 SCV000424712 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338057 SCV000424713 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385704 SCV000424714 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293728 SCV000424715 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351002 SCV000424716 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397606 SCV000424717 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234503 SCV000286449 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039862 SCV000063553 benign not specified 2014-12-23 criteria provided, single submitter clinical testing p.Ser3678Asn in exon 47 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 4.3% (495/11530) of Latino chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs184740744). In addition, multiple mammals carry an asparagine (Asn) at t his position, despite high amino acid conservation nearby, supporting that this change would be tolerated.

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