ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)

gnomAD frequency: 0.00012  dbSNP: rs202206216
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227172 SCV000286750 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-10 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293080 SCV001434063 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV001553137 SCV001773951 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444893 SCV002611846 likely benign Cardiovascular phenotype 2019-05-22 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 RCV001553137 SCV003823613 uncertain significance not provided 2023-01-16 criteria provided, single submitter clinical testing

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