ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)

gnomAD frequency: 0.00005  dbSNP: rs201223583
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Total submissions: 5
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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 RCV000172277 SCV000051284 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000464968 SCV000542475 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000172277 SCV000980539 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Ambry Genetics RCV002354440 SCV002621130 likely benign Cardiovascular phenotype 2020-05-21 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.
Revvity Omics, Revvity RCV000172277 SCV003819051 uncertain significance not provided 2019-01-02 criteria provided, single submitter clinical testing

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