ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88224C>T (p.Phe29408=)

dbSNP: rs1701738144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484071 SCV001688479 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017840 SCV004848232 likely benign not specified 2018-09-14 criteria provided, single submitter clinical testing The p.Phe26840Phe variant in TTN is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2.

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