ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) (rs374656017)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152249 SCV000201063 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing The Arg19629Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/3960 A frican American chromosomes by the NHLBI Exome Sequencing Project ( Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724309 SCV000228409 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000152249 SCV000237442 likely benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000242806 SCV000320463 uncertain significance Cardiovascular phenotype 2015-11-20 criteria provided, single submitter clinical testing The p.R13132Q variant (also known as c.39395G>A), located in coding exon 143 of the TTN gene, results from a G to A substitution at nucleotide position 39395. The arginine at codon 13132 is replaced by glutamine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs374656017. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/12236) total alleles studied, having been observed in 0.03% (1/3960) African American alleles. 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 variantremains unclear.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724309 SCV001249863 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing

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