ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2331C>G (p.Ile777Met)

gnomAD frequency: 0.00006  dbSNP: rs1157627413
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703055 SCV000831936 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 777 of the TTN protein (p.Ile777Met). The isoleucine residue is @@AA_CONSERV@@ conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. 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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