ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11689G>T (p.Asp3897Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1300532206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752489 SCV001997349 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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