ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72965T>G (p.Phe24322Cys)

dbSNP: rs1003983177
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Total submissions: 2
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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 RCV001170336 SCV001332907 uncertain significance Cardiomyopathy 2018-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538391 SCV004711689 uncertain significance TTN-related disorder 2023-11-15 no assertion criteria provided clinical testing The TTN c.72965T>G variant is predicted to result in the amino acid substitution p.Phe24322Cys. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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