ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)

gnomAD frequency: 0.00001  dbSNP: rs1034492140
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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 RCV000768929 SCV000900302 likely benign Cardiomyopathy 2017-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412069 SCV001614141 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-06-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141748 SCV003821072 uncertain significance not provided 2019-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686611 SCV005180528 likely benign Cardiovascular phenotype 2024-03-21 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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