ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)

gnomAD frequency: 0.00005  dbSNP: rs727505046
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Total submissions: 5
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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 RCV000156473 SCV000206192 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Asp30851Asp in exon 306 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.
Invitae RCV000474266 SCV000555136 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001719982 SCV000730439 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620082 SCV000735258 likely benign Cardiovascular phenotype 2016-01-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156473 SCV001158237 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing

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