ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63087C>T (p.Leu21029=)

gnomAD frequency: 0.00001  dbSNP: rs753066420
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Total submissions: 4
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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 RCV001171286 SCV001334009 likely benign Cardiomyopathy 2018-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455872 SCV001659639 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001567686 SCV001791416 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339423 SCV002619299 likely benign Cardiovascular phenotype 2020-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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