ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr)

dbSNP: rs1553500627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533295 SCV000642500 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-09-13 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with unknown impact on protein function. Missense variants in this region of the TTN gene are typically not causative for cardiac disease, but may be relevant for neuromuscular disorders. However, the available evidence is currently insufficient to determine this variant’s role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. This sequence change replaces isoleucine with threonine at codon 33627 of the TTN protein (p.Ile33627Thr). There is a moderate physicochemical difference between isoleucine and threonine.

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