ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1625G>A (p.Gly542Glu)

gnomAD frequency: 0.00001  dbSNP: rs372532510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027697 SCV002309993 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-03-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant is present in population databases (rs372532510, ExAC 0.001%). This sequence change replaces glycine with glutamic acid at codon 542 of the CNTNAP2 protein (p.Gly542Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Ambry Genetics RCV004612114 SCV005106530 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.1625G>A (p.G542E) alteration is located in exon 10 (coding exon 10) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 1625, causing the glycine (G) at amino acid position 542 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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