ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)

dbSNP: rs2154317682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Loeys Lab, Universiteit Antwerpen RCV001375661 SCV001572589 pathogenic Primary dilated cardiomyopathy 2021-02-26 criteria provided, single submitter clinical testing This sequence change results in a truncating variant of the TTN gene (p.(Ser4531*))The variant is absent in population databases such as gnomAD (PM2) . The variant has not been described before. Functional studies have not been performed. However truncating and frameshift mutations in TTN are a well-known mechanism for dilated cardiomyopathy (PMID: 22335739) (PVS1). This variant was identified in a 7 unrelated patients with DCM, and co-segregated within 4 families, for the other 3 patients no data on segregation was available (PP1). In conclusion this variant was classified as pathogenic according to ACMG-guidelines (PVS1, PM2, PP1).
Center for Human Genetics, University of Leuven RCV001375661 SCV002817415 pathogenic Primary dilated cardiomyopathy 2022-12-31 criteria provided, single submitter clinical testing

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