ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del)

dbSNP: rs774574734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172156 SCV000054865 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001852095 SCV002212299 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-08-21 criteria provided, single submitter clinical testing 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. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 191816). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs774574734, gnomAD 0.0009%). This variant, c.103921_103923del, results in the deletion of 1 amino acid(s) of the TTN protein (p.Ser34641del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity RCV000172156 SCV003825422 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing

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