ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43918C>T (p.Arg14640Cys)

gnomAD frequency: 0.00002  dbSNP: rs72650088
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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 RCV001799194 SCV002042480 uncertain significance Cardiomyopathy 2021-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536317 SCV004115553 uncertain significance TTN-related disorder 2023-11-21 no assertion criteria provided clinical testing The TTN c.43918C>T variant is predicted to result in the amino acid substitution p.Arg14640Cys. This variant has been reported in one individual with dilated cardiomyopathy (Begay et al. 2015. PubMed ID: 26567375). This variant is reported in 0.0063% of alleles in individuals of European (Non-Finnish) 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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