ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70761G>T (p.Gly23587=)

gnomAD frequency: 0.00215  dbSNP: rs190149868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556392 SCV000643611 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV002293452 SCV002586886 likely benign not provided 2021-11-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002330894 SCV002627929 benign Cardiovascular phenotype 2021-09-02 criteria provided, single submitter clinical testing This alteration is classified as 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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