ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)

gnomAD frequency: 0.00046  dbSNP: rs73036368
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040741 SCV000064432 benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Arg26775His variant in TTN is classified as benign because it has been ide ntified in 0.1% (29/23976) of African chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP Criteria applied: BA1.
Genetic Services Laboratory, University of Chicago RCV000118786 SCV000153376 uncertain significance not provided 2014-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000118786 SCV000237692 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000476079 SCV000542688 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000118786 SCV000706717 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798191 SCV002043035 benign Cardiomyopathy 2019-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354215 SCV002659907 likely benign Cardiovascular phenotype 2020-06-01 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Revvity Omics, Revvity RCV000118786 SCV003819758 uncertain significance not provided 2022-06-17 criteria provided, single submitter clinical testing

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