ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69144A>G (p.Glu23048=)

dbSNP: rs786205342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172792 SCV000051722 benign not specified 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002054036 SCV002324351 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020054 SCV005020911 likely benign Cardiovascular phenotype 2023-09-30 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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