ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly)

gnomAD frequency: 0.00003  dbSNP: rs753860243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187181 SCV000240761 uncertain significance not provided 2021-02-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001852448 SCV002188501 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-05-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 446 of the CNTNAP2 protein (p.Asp446Gly). This variant is present in population databases (rs753860243, gnomAD 0.02%). 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: 205240). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002503739 SCV002814727 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2022-04-15 criteria provided, single submitter clinical testing

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