ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)

gnomAD frequency: 0.00003  dbSNP: rs374022393
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Total submissions: 6
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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 RCV000154906 SCV000204588 uncertain significance not specified 2013-10-10 criteria provided, single submitter clinical testing The Ile26100Thr variant in TTN has not been reported in individuals with cardiom yopathy but has been identified in 1/3766 African American chromosomes by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein. Additiona l information is needed to fully assess the clinical significance of the Ile2610 0Thr variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000477626 SCV000542422 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733310 SCV000861359 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768882 SCV000900255 uncertain significance Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000733310 SCV001764332 likely benign not provided 2020-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354369 SCV002651813 likely benign Cardiovascular phenotype 2020-03-03 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.

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