ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1037A>G (p.Asn346Ser)

gnomAD frequency: 0.00001  dbSNP: rs748787013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000421091 SCV000232262 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000421091 SCV000511414 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001051109 SCV001215243 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-06 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 198560). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs748787013, gnomAD 0.006%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 346 of the CNTNAP2 protein (p.Asn346Ser).

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