ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)

gnomAD frequency: 0.00012  dbSNP: rs397517720
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Total submissions: 3
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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 RCV000040666 SCV000064357 uncertain significance not specified 2012-10-31 criteria provided, single submitter clinical testing The Ile24587Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory or in large and broad European American and A frican American populations screened by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). This data is insufficient to assess the clinica l significance of this variant. The affected amino acid is not well conserved in evolution, suggesting that a change would be tolerated but additional informati on is needed to fully assess the clinical significance of the Ile24587Thr varian t.
Invitae RCV000524889 SCV000643746 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617267 SCV000737306 likely benign Cardiovascular phenotype 2020-03-20 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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