ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs)

dbSNP: rs1703415128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200433 SCV001371394 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV003447579 SCV004175648 likely pathogenic Primary dilated cardiomyopathy 2022-11-01 criteria provided, single submitter clinical testing The TTN c.85200_85203del variant is classified as Likely Pathogenic (PVS1_Strong, PM2) This TTN c.85200_85203del variant is located in exon 326/363 and is predicted to cause a shift in the reading frame at codon 28401, likely resulting in nonsense mediated decay of the mRNA product. This is a null variant in the TTN A-band where previous null variants have been determined to be causative of disease (PVS1_Strong). The variant has been reported as Pathogenic by another diagnostic laboratory (ClinVar #932568) and is absent from population databases (PM2). It has not been reported in dbSNP or HGMD and variants further downstream from this variant are reported as disease causing.

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