ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.180T>C (p.Asp60=)

gnomAD frequency: 0.00038  dbSNP: rs144750850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080535 SCV000286471 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000727752 SCV000515072 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000417639 SCV000710972 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing p.Asp60Asp in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 9/10406 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs144750850).
Eurofins Ntd Llc (ga) RCV000727752 SCV000855130 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408962 SCV002711938 likely benign Cardiovascular phenotype 2019-05-08 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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