ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10546G>T (p.Glu3516Ter)

dbSNP: rs2154335998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001847463 SCV002104460 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in the I-band region of the TTN gene, which is not one of the regions known to be significantly associated with TTN-related disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875)

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