ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54771C>T (p.Pro18257=)

gnomAD frequency: 0.00018  dbSNP: rs190716158
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698299 SCV000533290 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768992 SCV000900365 likely benign Cardiomyopathy 2016-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945627 SCV001091663 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436341 SCV002752151 likely benign Cardiovascular phenotype 2018-09-29 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404567 SCV006067730 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BP7

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