ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58718C>T (p.Ala19573Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004726044 SCV005334127 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; Located in the A-band region of TTN; This variant is associated with the following publications: (PMID: 23975875)

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