ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)

gnomAD frequency: 0.00086  dbSNP: rs181299250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176828 SCV000228572 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV001080624 SCV000643742 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000176828 SCV001146506 benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345612 SCV002646706 benign Cardiovascular phenotype 2020-07-23 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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