ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49488A>G (p.Lys16496=)

dbSNP: rs1553701108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535650 SCV000643277 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-06 criteria provided, single submitter clinical testing In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. This variant identified in the TTN gene is located in the A-band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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 affects codon 16496 of the TTN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTN protein.

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