ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly)

gnomAD frequency: 0.00004  dbSNP: rs397517615
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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 RCV000040350 SCV000064041 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing The p.Ser15463Gly variant in TTN has been previously identified by our laborator y in 1 child with DCM who also carried a likely pathogenic variant in this gene. It has also been identified in 1/712 chromosomes of unspecified ancestry by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397 517615). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Ser15463Gly variant is uncertain.
Invitae RCV000227392 SCV000286713 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001588859 SCV001824457 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 24503780)
Revvity Omics, Revvity RCV001588859 SCV003824896 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing

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