ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)

gnomAD frequency: 0.00001  dbSNP: rs756873840
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724199 SCV000228283 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213435 SCV000272714 uncertain significance not specified 2016-01-26 criteria provided, single submitter clinical testing The p.Gly17888Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/64398 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gly17888Ser variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000231416 SCV000286763 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798630 SCV002042579 uncertain significance Cardiomyopathy 2020-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453628 SCV002614442 uncertain significance Cardiovascular phenotype 2020-07-29 criteria provided, single submitter clinical testing The p.G11391S variant (also known as c.34171G>A), located in coding exon 131 of the TTN gene, results from a G to A substitution at nucleotide position 34171. The glycine at codon 11391 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000724199 SCV004237404 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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