ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del)

dbSNP: rs774683936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547459 SCV000642995 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-08-31 criteria provided, single submitter clinical testing This variant, c.32936_32938del, results in the deletion of 1 amino acid(s) of the TTN protein (p.Glu10979del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774683936, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the I band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). 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.
Revvity Omics, Revvity RCV003139790 SCV003819551 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing

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