ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2354G>A (p.Ser785Asn)

gnomAD frequency: 0.00001  dbSNP: rs1275452667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776830 SCV002013700 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002541079 SCV003456558 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 785 of the CNTNAP2 protein (p.Ser785Asn). This variant is not present in population databases (gnomAD no frequency). 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: 1320851). 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: "Benign"; Align-GVGD: "Class C0"). 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 RCV004611875 SCV005106533 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.2354G>A (p.S785N) alteration is located in exon 15 (coding exon 15) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 2354, causing the serine (S) at amino acid position 785 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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