ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)

gnomAD frequency: 0.00002  dbSNP: rs563233842
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Total submissions: 7
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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 RCV000172276 SCV000051149 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152244 SCV000201051 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Arg19914Trp in exon 268 of TTN: This variant is not expected to have clinical significance it has been identified in 0.4% (65/16614) of South Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV001082358 SCV000643561 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000152244 SCV000725807 likely benign not specified 2017-12-13 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768948 SCV000900321 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371999 SCV002625551 benign Cardiovascular phenotype 2020-09-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 RCV004532693 SCV004714206 likely benign TTN-related disorder 2022-12-28 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).

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