ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90129A>G (p.Thr30043=)

dbSNP: rs727504960
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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 RCV000156367 SCV000206085 likely benign not specified 2014-02-28 criteria provided, single submitter clinical testing Thr27475Thr in exon 284 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Thr27475 Thr in exon 284 of TTN (allele fr equency = n/a)
Ambry Genetics RCV004019878 SCV005020795 likely benign Cardiovascular phenotype 2023-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005213213 SCV005854468 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-15 criteria provided, single submitter clinical testing

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