ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3235G>A (p.Val1079Ile)

gnomAD frequency: 0.00002  dbSNP: rs529269450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500101 SCV000594185 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001562051 SCV001784758 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003159623 SCV003885090 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.3235G>A (p.V1079I) alteration is located in exon 19 (coding exon 19) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 3235, causing the valine (V) at amino acid position 1079 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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