ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.186C>T (p.Arg62=)

gnomAD frequency: 0.00009  dbSNP: rs528853682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177399 SCV000229251 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001079082 SCV000286475 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170881 SCV001333503 likely benign Cardiomyopathy 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408768 SCV002723474 likely benign Cardiovascular phenotype 2019-06-24 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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