ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter)

dbSNP: rs2154173235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Loeys Lab, Universiteit Antwerpen RCV001375658 SCV001572586 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.( Tyr23174*))The variant is absent from 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). The variant is located in the A-band of the titin-protein which is a known hotspot for pathogenic variants (PM1). This variant was identified in a patient with DCM, however no data on co-segregation are available. In conclusion this variant was classified as pathogenic according to ACMG-guidelines (PVS1, PM1, PM2).

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