ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile)

gnomAD frequency: 0.00001  dbSNP: rs1038769207
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473163 SCV000542410 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 33059 of the TTN protein (p.Thr33059Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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