ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)

gnomAD frequency: 0.00001  dbSNP: rs773001228
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Total submissions: 4
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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 RCV000222129 SCV000271095 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Asp26127Asp in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/66374 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
Eurofins Ntd Llc (ga) RCV000734322 SCV000862453 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV001403631 SCV001605504 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354602 SCV002651822 likely benign Cardiovascular phenotype 2021-04-07 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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