ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59032A>G (p.Ile19678Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150720 SCV003838593 uncertain significance Cardiomyopathy 2021-09-17 criteria provided, single submitter clinical testing
GeneDx RCV004779493 SCV005388714 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV004736317 SCV005361337 uncertain significance TTN-related disorder 2024-06-27 no assertion criteria provided clinical testing The TTN c.59032A>G variant is predicted to result in the amino acid substitution p.Ile19678Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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