ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88226G>A (p.Arg29409His)

gnomAD frequency: 0.00002  dbSNP: rs753223608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143029 SCV003822255 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150586 SCV003838524 uncertain significance Cardiomyopathy 2021-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736313 SCV005350876 uncertain significance TTN-related disorder 2024-08-14 no assertion criteria provided clinical testing The TTN c.88226G>A variant is predicted to result in the amino acid substitution p.Arg29409His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0052% 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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