ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) (rs372841288)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727477 SCV000708900 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000592081 SCV000718237 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001349766 SCV001544126 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 35865 of the TTN protein (p.Glu35865Lys). There is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs372841288, ExAC 0.001%). This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 502239). 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000727477 SCV001743109 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000727477 SCV001922635 uncertain significance not provided no assertion criteria provided clinical testing

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