ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.821G>A (p.Arg274His)

gnomAD frequency: 0.00006  dbSNP: rs200893856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536992 SCV000654464 uncertain significance Epilepsy, familial adult myoclonic, 5 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 274 of the CNTN2 protein (p.Arg274His). This variant is present in population databases (rs200893856, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 474492). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNTN2 protein function. 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 RCV002526700 SCV003699238 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.821G>A (p.R274H) alteration is located in exon 8 (coding exon 7) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 821, causing the arginine (R) at amino acid position 274 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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