ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25282G>A (p.Gly8428Arg)

dbSNP: rs2154299084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754359 SCV001987463 uncertain significance not provided 2019-04-17 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; Not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge

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