ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) (rs1553484561)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503762 SCV000597632 uncertain significance not specified 2016-09-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000503762 SCV000712579 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing The p.Pro32705Gln variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Pro32705Gln variant is uncertain.
Invitae RCV001052844 SCV001217075 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 35273 of the TTN protein (p.Pro35273Gln). There is a moderate physicochemical difference between proline and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 437089). This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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