ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74190T>G (p.Gly24730=)

dbSNP: rs201797603
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242851 SCV000317784 likely benign Cardiovascular phenotype 2012-10-16 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171274 SCV001333983 benign Cardiomyopathy 2018-02-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840441 SCV002100226 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840442 SCV002100227 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840443 SCV002100228 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840440 SCV002100229 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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