ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)

gnomAD frequency: 0.00003  dbSNP: rs727505248
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Total submissions: 4
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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 RCV000156768 SCV000206489 likely benign not specified 2014-08-21 criteria provided, single submitter clinical testing Thr13941Thr in exon 212 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.
Eurofins Ntd Llc (ga) RCV000725597 SCV000338014 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV002053894 SCV002430711 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426760 SCV002726770 likely benign Cardiovascular phenotype 2019-08-29 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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