ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln)

dbSNP: rs765274398
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696582 SCV000825147 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-06-21 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces glutamic acid with glutamine at codon 35142 of the TTN protein (p.Glu35142Gln). There is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency).

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