ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97220T>C (p.Ile32407Thr)

dbSNP: rs1695062428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261700 SCV002541915 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
GeneDx RCV002261700 SCV005401752 uncertain significance not provided 2024-12-18 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 in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (PMID: 22335739); This variant is associated with the following publications: (PMID: 23975875)

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