ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr)

dbSNP: rs1559029083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686048 SCV000813551 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 566281). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 34297 of the TTN protein (p.Lys34297Thr).

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