ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) (rs758630057)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766800 SCV000240798 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing The R884Q variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R884Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. The variant alters a position that is conserved through mammals; however, Glutamine is observed at this position in more distantly related species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Genetic Services Laboratory,University of Chicago RCV000187216 SCV000594171 uncertain significance not specified 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV001080754 SCV001006021 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080754 SCV001322223 uncertain significance Pitt-Hopkins-like syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656009 SCV000588285 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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