ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)

gnomAD frequency: 0.00006  dbSNP: rs397517684
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Total submissions: 10
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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 RCV000040554 SCV000064245 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Thr20867Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue. It has been ident ified in 1/66632 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517684).
GeneDx RCV000714085 SCV000531489 likely benign not provided 2018-04-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Athena Diagnostics RCV000714085 SCV000844752 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471434 SCV001675538 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839685 SCV002100297 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839686 SCV002100298 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839687 SCV002100299 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839684 SCV002100300 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326751 SCV002627635 likely benign Cardiovascular phenotype 2022-08-03 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486594 SCV004240088 likely benign Cardiomyopathy 2023-06-06 criteria provided, single submitter clinical testing

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