ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3797-5G>A

gnomAD frequency: 0.00003  dbSNP: rs745770134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270138 SCV000467305 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325304 SCV000467306 uncertain significance Cortical dysplasia-focal epilepsy syndrome 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.
Invitae RCV000325304 SCV001594717 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001530851 SCV001745754 likely benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365419 SCV002625829 uncertain significance Inborn genetic diseases 2017-07-28 criteria provided, single submitter clinical testing The c.3797-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 24 in the CNTNAP2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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