ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5381T>C (p.Val1794Ala)

gnomAD frequency: 0.00002  dbSNP: rs774766261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758299 SCV001985898 uncertain significance not provided 2020-10-07 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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799122 SCV002042563 likely benign Cardiomyopathy 2023-02-13 criteria provided, single submitter clinical testing

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