ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.160G>A (p.Val54Met)

gnomAD frequency: 0.00001  dbSNP: rs139517732
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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 RCV001213576 SCV001385212 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 54 of the TTN protein (p.Val54Met). This variant is present in population databases (rs139517732, gnomAD 0.05%). This missense change has been observed in individual(s) with cardiomyopathy (PMID: 11846417, 35063694). ClinVar contains an entry for this variant (Variation ID: 12656). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects TTN function (PMID: 11846417). This variant is located in the Z band of TTN (PMID: 25589632). Non-truncating variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). 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.
OMIM RCV000013492 SCV000033739 pathogenic Dilated cardiomyopathy 1G 2002-02-22 no assertion criteria provided literature only

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