ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)

gnomAD frequency: 0.00003  dbSNP: rs371678190
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Total submissions: 5
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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 RCV000220525 SCV000271066 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg20249Arg in Exon 271 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6648 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
GeneDx RCV001697246 SCV000534381 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Invitae RCV000643705 SCV000765392 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769970 SCV000901396 likely benign Cardiomyopathy 2016-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327083 SCV002628520 likely benign Cardiovascular phenotype 2021-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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