ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59073T>C (p.Asp19691=)

gnomAD frequency: 0.00009  dbSNP: rs775577598
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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 RCV000220880 SCV000271046 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Asp17123Asp in exon 249 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 2/11492 Latino c hromosomes and 1/9802 African American by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org).
Invitae RCV001499629 SCV001704395 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001556483 SCV001778073 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321836 SCV002608044 likely benign Cardiovascular phenotype 2021-03-27 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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