ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1329C>A (p.Ser443Arg)

gnomAD frequency: 0.00001  dbSNP: rs779881849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412939 SCV000492098 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The S443R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S443R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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