ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88367C>G (p.Thr29456Arg)

dbSNP: rs1468721085
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767625 SCV001998518 uncertain significance not provided 2019-11-22 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; Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported.; Has not been previously published as pathogenic or benign to our knowledge

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