ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)

gnomAD frequency: 0.00011  dbSNP: rs370541682
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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 RCV000152189 SCV000200928 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing The Lys28325Glu variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/3927 African American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, the clinical significa nce of the Lys28325Glu variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000533851 SCV000643904 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV001559358 SCV001781572 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28611029)
Ambry Genetics RCV002362798 SCV002660211 likely benign Cardiovascular phenotype 2020-03-31 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.
Revvity Omics, Revvity RCV001559358 SCV003824201 uncertain significance not provided 2020-10-24 criteria provided, single submitter clinical testing

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