ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11327T>C (p.Phe3776Ser)

gnomAD frequency: 0.00001  dbSNP: rs774659393
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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 RCV001171052 SCV001333721 likely benign Cardiomyopathy 2022-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538392 SCV004113733 uncertain significance TTN-related disorder 2023-02-08 criteria provided, single submitter clinical testing The TTN c.11327T>C variant is predicted to result in the amino acid substitution p.Phe3776Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179606633-A-G). 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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