ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)

gnomAD frequency: 0.00005  dbSNP: rs369292052
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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) RCV000597169 SCV000703736 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642885 SCV000764572 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000597169 SCV002003855 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002331013 SCV002634126 uncertain significance Cardiovascular phenotype 2018-08-15 criteria provided, single submitter clinical testing The p.R14835Q variant (also known as c.44504G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 44504. The arginine at codon 14835 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
New York Genome Center RCV002467916 SCV002764469 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2021-12-10 criteria provided, single submitter clinical testing The c.71699G>A (p.Arg23900Gln) variant identified in the TTN gene substitutes a well conserved Arginine for Glutamine at amino acid 23900/35992(coding exon 326/364) in transcript NM_001267550. This variant is found with low frequency in gnomAD(v3.1.2)(8 heterozygotes, 0 homozygotes; allele frequency:5.26e-5) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT;score:0.00) and Pathogenic (REVEL; score:0.6119) to the function of the canonical transcript. This variant is reported as a Variant of Uncertain Significance in ClinVar(VarID:498625), and to our current knowledge has not been reported in an affected individual in the literature. The p.Arg23900 residue is within the A-Band of TTN (http://cardiodb.org/titin/). Given the lack of compelling evidence for its pathogenicity, the c.71699G>A (p.Arg23900Gln) variant identified in the TTN gene is reported as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000597169 SCV003827916 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing

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