ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)

gnomAD frequency: 0.00011  dbSNP: rs572453785
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471975 SCV000542985 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002316 SCV001160209 uncertain significance not specified 2019-01-11 criteria provided, single submitter clinical testing The TTN c.48989G>A; p.Arg16330His variant (rsID; ClinVar Variation ID: 405071) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Arg16330His variant cannot be determined with certainty.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798828 SCV002042546 uncertain significance Cardiomyopathy 2019-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436389 SCV002749303 uncertain significance Cardiovascular phenotype 2020-01-24 criteria provided, single submitter clinical testing The p.R9833H variant (also known as c.29498G>A), located in coding exon 118 of the TTN gene, results from a G to A substitution at nucleotide position 29498. The arginine at codon 9833 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well 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.
Fulgent Genetics, Fulgent Genetics RCV002481383 SCV002776521 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139640 SCV003822267 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing

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