ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.429A>G (p.Glu143=)

dbSNP: rs878966869
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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 RCV000530311 SCV000643165 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600395 SCV000712708 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing p.Glu143Glu in exon 4 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.

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