ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys)

gnomAD frequency: 0.00001  dbSNP: rs373257372
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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) RCV000309934 SCV000333447 uncertain significance not provided 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV001342179 SCV001536092 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 34914 of the TTN protein (p.Met34914Lys). This variant is present in population databases (rs373257372, gnomAD 0.007%). 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: 282167). 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). 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 RCV000309934 SCV003825472 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing

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