ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20074G>A (p.Ala6692Thr)

gnomAD frequency: 0.00001  dbSNP: rs757056558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769170 SCV002003294 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing Not observed at a significant frequency 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

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