ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)

dbSNP: rs1689452294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002630833 SCV002965958 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 34790 of the TTN protein (p.Leu34790Pro). This variant has not been reported in the literature in individuals affected with TTN-related conditions. 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.
Revvity Omics, Revvity RCV003138308 SCV003827228 uncertain significance not provided 2020-08-07 criteria provided, single submitter clinical testing

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