ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)

gnomAD frequency: 0.00001  dbSNP: rs191054704
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Total submissions: 8
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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 RCV000152170 SCV000200895 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing The Asp30254Gly variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e European American and African American populations by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/), though it may be present in othe r populations. Computational analyses (conservation, PolyPhen2, and SIFT) sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000727745 SCV000855121 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Invitae RCV001088064 SCV001131863 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-26 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293127 SCV001434117 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV000727745 SCV001873630 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371998 SCV002667917 uncertain significance Cardiovascular phenotype 2018-08-28 criteria provided, single submitter clinical testing The p.D23757G variant (also known as c.71270A>G), located in coding exon 179 of the TTN gene, results from an A to G substitution at nucleotide position 71270. The aspartic acid at codon 23757 is replaced by glycine, 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 Omics RCV000727745 SCV003825507 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486672 SCV004240199 benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing

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