ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3647C>T (p.Ala1216Val)

dbSNP: rs553418598
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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 RCV001072043 SCV001237386 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1216 of the CNTNAP2 protein (p.Ala1216Val). This variant is present in population databases (rs553418598, gnomAD 0.07%). 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: 864776). 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 RCV004031166 SCV004929305 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.3647C>T (p.A1216V) alteration is located in exon 22 (coding exon 22) of the CNTNAP2 gene. This alteration results from a C to T substitution at nucleotide position 3647, causing the alanine (A) at amino acid position 1216 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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