ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.659G>A (p.Arg220Gln)

gnomAD frequency: 0.00003  dbSNP: rs794729621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185380 SCV000238280 uncertain significance not specified 2013-12-13 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s).
Ambry Genetics RCV002362974 SCV002663413 uncertain significance Cardiovascular phenotype 2019-12-13 criteria provided, single submitter clinical testing The p.R220Q variant (also known as c.659G>A), located in coding exon 4 of the TTN gene, results from a G to A substitution at nucleotide position 659. The arginine at codon 220 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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.
Clinical Genetics, Academic Medical Center RCV001699059 SCV001926164 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699059 SCV001967426 uncertain significance not provided no assertion criteria provided clinical testing

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