ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) (rs200866893)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513738 SCV000202512 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000513738 SCV000240727 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The A25T variant has been reported previously in an individual with persistent developmental stuttering; however, the authors concluded that CNTNAP2 variants were not associated with stuttering (Han et al., 2014). The A25T variant is observed in 14/5416 (0.3%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The A25T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differin polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. 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.
Invitae RCV001082510 SCV000289932 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513738 SCV000611000 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513738 SCV000841675 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720785 SCV000851667 uncertain significance History of neurodevelopmental disorder 2017-04-21 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764694 SCV000895828 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082510 SCV001325872 uncertain significance Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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