ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)

gnomAD frequency: 0.00006  dbSNP: rs118161093
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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) RCV000725466 SCV000700983 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000725466 SCV000730323 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27066551, 28771489)
Invitae RCV001086587 SCV001001342 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350421 SCV002648884 likely benign Cardiovascular phenotype 2019-03-11 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.

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