ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)

gnomAD frequency: 0.00003  dbSNP: rs587780320
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116785 SCV000150769 uncertain significance not provided 2013-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000116785 SCV000240837 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28569743)
Fulgent Genetics, Fulgent Genetics RCV000515348 SCV000611466 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644729 SCV000766432 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 162 of the CNTNAP2 protein (p.Val162Gly). This variant is present in population databases (rs587780320, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features of CNTNAP2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 128808). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002528209 SCV003740443 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.485T>G (p.V162G) alteration is located in exon 4 (coding exon 4) of the CNTNAP2 gene. This alteration results from a T to G substitution at nucleotide position 485, causing the valine (V) at amino acid position 162 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000644729 SCV003831085 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000116785 SCV005409399 uncertain significance not provided 2024-06-06 criteria provided, single submitter clinical testing PP3

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