ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) (rs368945564)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185111 SCV000237936 likely benign not specified 2018-02-08 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727168 SCV000706314 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331658 SCV001523749 uncertain significance Left ventricular noncompaction 2 2019-08-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001366707 SCV001563020 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 34993 of the TTN protein (p.Thr34993Met). There is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs368945564, ExAC 0.01%). This variant has not been reported in the literature in individuals with TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 203088). 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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