ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln)

dbSNP: rs138257598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187222 SCV000240804 uncertain significance not provided 2013-09-17 criteria provided, single submitter clinical testing p.His985Gln (CAC>CAA): c.2955 C>A in exon 18 of the CNTNAP2 gene (NM_014141.4). The His985Gln missense change in the CNTNAP2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of a positively charged Histidine residue with an uncharged Glutamine residue. However, the variant alters a position that is not conserved across species, and in silico analysis predicts this variant is likely benign. Therefore, based on the currently available information, it is unclear whether His985Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000539410 SCV000645098 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 985 of the CNTNAP2 protein (p.His985Gln). This variant is present in population databases (rs138257598, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 205277). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000765935 SCV000897355 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2018-10-31 criteria provided, single submitter clinical testing

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