ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) (rs374085402)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229639 SCV000286662 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253847 SCV000319982 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.H5457R variant (also known as c.16370A>G), located in coding exon 63 of the TTN gene, results from an A to G substitution at nucleotide position 16370. The histidine at codon 5457 is replaced by arginine, 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 probably damaging and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725708 SCV000701091 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000597664 SCV000714716 likely benign not specified 2017-06-05 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769020 SCV000900393 uncertain significance Cardiomyopathy 2016-06-16 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293151 SCV001434141 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research

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