ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) (rs189731792)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724691 SCV000229121 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000724691 SCV000240831 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The R114Q variant has been reported previously in a control individual and was not predicted to be deleterious; however, additional information regarding the zygosity of the variant or the phenotype of the individual was not provided (Bakkaloglu et al., 2008). The R114Q variant is observed in 38/11,540 (0.3%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R114Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000515189 SCV000611464 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001084928 SCV000645106 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720389 SCV000851266 uncertain significance History of neurodevelopmental disorder 2019-03-19 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV001084928 SCV001320547 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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