ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)

gnomAD frequency: 0.00001  dbSNP: rs577667352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727386 SCV000708089 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000727386 SCV000727772 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Invitae RCV001860207 SCV002114390 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 34188 of the TTN protein (p.Glu34188Lys). This variant is present in population databases (rs577667352, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 501640). 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 M band of TTN (PMID: 25589632). Non-truncating variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 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.
Revvity Omics, Revvity RCV000727386 SCV003818525 uncertain significance not provided 2020-11-23 criteria provided, single submitter clinical testing

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