ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)

gnomAD frequency: 0.00004  dbSNP: rs190461403
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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 RCV000152360 SCV000201280 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Glu10759Gly variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/128 Mexican chromosomes by the 1000 Genomes Project (dbSNP rs190461403). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Glu10759Gly variant is un certain.
GeneDx RCV001704102 SCV000237132 likely benign not provided 2019-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000228409 SCV000286636 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001704102 SCV003826622 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing

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