ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44937T>C (p.Ala14979=)

dbSNP: rs370413913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603906 SCV000731584 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing p.Ala12411Ala in exon 193 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/51966 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs370413913).
Invitae RCV001407728 SCV001609707 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404700 SCV002713923 likely benign Cardiovascular phenotype 2021-10-25 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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