ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25283G>T (p.Gly8428Val)

dbSNP: rs2154299083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770814 SCV001992871 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported; Not observed in large population cohorts (Lek et al., 2016)

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