ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103933G>C (p.Asp34645His)

dbSNP: rs2154134509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768619 SCV001992419 uncertain significance not provided 2019-04-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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