ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2315T>C (p.Val772Ala)

gnomAD frequency: 0.00002  dbSNP: rs370466945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483359 SCV000566367 uncertain significance not provided 2024-11-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV000542329 SCV000645092 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 772 of the CNTNAP2 protein (p.Val772Ala). This variant is present in population databases (rs370466945, gnomAD 0.01%). 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: 418940). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782394 SCV005394269 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing Variant summary: CNTNAP2 c.2315T>C (p.Val772Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251460 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2315T>C in individuals affected with Autism, Susceptibility To, 15 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 418940). Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV004975558 SCV005556430 uncertain significance Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing The c.2315T>C (p.V772A) alteration is located in exon 15 (coding exon 15) of the CNTNAP2 gene. This alteration results from a T to C substitution at nucleotide position 2315, causing the valine (V) at amino acid position 772 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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