ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002424241 SCV002725893 pathogenic Inborn genetic diseases 2019-03-08 criteria provided, single submitter clinical testing The p.G701* pathogenic mutation (also known as c.2101G>T), located in coding exon 14 of the CNTNAP2 gene, results from a G to T substitution at nucleotide position 2101. This changes the amino acid from a glycine to a stop codon within coding exon 14. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098614 SCV003331132 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly701*) in the CNTNAP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707).

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