ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) (rs367914610)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152232 SCV000201025 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing The Ile20800Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8230 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Co mputational analyses (biochemical amino acid properties, conservation, PolyPhen2 , and SIFT) suggest that this variant may impact the protein, though this inform ation is not predictive enough to determine pathogenicity. Additional informatio n is needed to fully assess the clinical significance of this variant.
GeneDx RCV000997409 SCV000237479 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Invitae RCV000457813 SCV000542388 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620418 SCV000736014 uncertain significance Cardiovascular phenotype 2017-09-06 criteria provided, single submitter clinical testing The p.I14303V variant (also known as c.42907A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 42907. The isoleucine at codon 14303 is replaced by valine, an amino acid with highly similar properties. 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768945 SCV000900318 uncertain significance Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997409 SCV001152782 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000997409 SCV001714045 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing

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