ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82551C>G (p.Thr27517=)

gnomAD frequency: 0.00002  dbSNP: rs373634657
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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 RCV000608243 SCV000711405 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing p.Thr24949Thr in exon 275 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 4/66720 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs373634657).
Invitae RCV000643725 SCV000765412 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350436 SCV002649394 likely benign Cardiovascular phenotype 2018-02-13 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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