ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) (rs371422299)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241668 SCV000320406 uncertain significance Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The p.R10222H variant (also known as c.30665G>A), located in coding exon 123 of the TTN gene, results from a G to A substitution at nucleotide position 30665. The arginine at codon 10222 is replaced by histidine, an amino acid with highly 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 variant remains unclear.
Invitae RCV000475954 SCV000542708 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611588 SCV000712932 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing The p.Arg16719His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/11432 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 71422299). This variant has been reported in ClinVar (Variant ID: 264456). Compu tational prediction tools and conservation analysis suggest that the p.Arg16719H is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.A rg16719His variant is uncertain.
GeneDx RCV000839331 SCV000981227 likely benign not provided 2019-09-27 criteria provided, single submitter clinical testing

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