ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85326C>T (p.Ala28442=)

gnomAD frequency: 0.00001  dbSNP: rs765915556
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Total submissions: 3
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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 RCV001170549 SCV001333135 likely benign Cardiomyopathy 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400958 SCV001602769 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307587 SCV003999492 likely benign Cardiovascular phenotype 2023-05-04 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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