ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del)

dbSNP: rs398124453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082409 SCV000114401 uncertain significance not provided 2013-07-23 criteria provided, single submitter clinical testing
Invitae RCV000543339 SCV000643235 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-17 criteria provided, single submitter clinical testing This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.47394_47411del, results in the deletion of 6 amino acid(s) of the TTN protein (p.Asp15799_Arg15804del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity Omics RCV000082409 SCV003821115 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing

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