ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64675G>A (p.Ala21559Thr)

gnomAD frequency: 0.00001  dbSNP: rs1182073050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997425 SCV001152809 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000997425 SCV004028088 uncertain significance not provided 2023-08-17 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 (Herman et al., 2012)

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