ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)

gnomAD frequency: 0.00004  dbSNP: rs1215527173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613908 SCV000730393 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000642997 SCV000764684 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768975 SCV000900348 likely benign Cardiomyopathy 2016-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002457957 SCV002611687 likely benign Cardiovascular phenotype 2021-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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