ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81038G>A (p.Arg27013Gln)

gnomAD frequency: 0.00006  dbSNP: rs376374751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172242 SCV000054924 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172242 SCV000855297 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345593 SCV002642792 uncertain significance Cardiovascular phenotype 2020-02-14 criteria provided, single submitter clinical testing The p.R17948Q variant (also known as c.53843G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 53843. The arginine at codon 17948 is replaced by glutamine, an amino acid with highly similar properties. This variant (referred to as p.R27013Q) co-occurred with a TTN frameshift variant in an individual from a dilated cardiomyopathy cohort (Minoche AE et al. Genet. Med., 2019 03;21:650-662). This variant (referred to as p.R24445Q) has also been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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 RCV000172242 SCV003819701 uncertain significance not provided 2019-03-03 criteria provided, single submitter clinical testing

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