ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3559A>G (p.Ile1187Val)

gnomAD frequency: 0.00001  dbSNP: rs764899392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412813 SCV000492221 uncertain significance not specified 2016-12-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CNTNAP2 gene. The I1187V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I1187V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I1187V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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. 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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