ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)

dbSNP: rs397517660
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Total submissions: 7
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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 RCV000040489 SCV000064180 likely benign not specified 2012-05-17 criteria provided, single submitter clinical testing Glu19161Glu in exon 260 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Glu19161Glu in exon 260 of TTN (allele fre quency = n/a)
Genetic Services Laboratory, University of Chicago RCV000040489 SCV000249277 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170805 SCV001333423 benign Cardiomyopathy 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514153 SCV002970266 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018901 SCV005020543 likely benign Cardiovascular phenotype 2024-02-29 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.
Clinical Genetics, Academic Medical Center RCV000040489 SCV001916986 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727544 SCV001972369 likely benign not provided no assertion criteria provided clinical testing

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