ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3410A>G (p.His1137Arg)

dbSNP: rs775065734
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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 RCV001063978 SCV001228850 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 1137 of the CNTNAP2 protein (p.His1137Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs775065734, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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 tolerated. 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 RCV004977974 SCV005556434 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.3410A>G (p.H1137R) alteration is located in exon 21 (coding exon 21) of the CNTNAP2 gene. This alteration results from a A to G substitution at nucleotide position 3410, causing the histidine (H) at amino acid position 1137 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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