ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1345G>A (p.Val449Met)

gnomAD frequency: 0.00001  dbSNP: rs553631482
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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 RCV001903283 SCV002162250 uncertain significance Epilepsy, familial adult myoclonic, 5 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 449 of the CNTN2 protein (p.Val449Met). This variant is present in population databases (rs553631482, 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: 1396999). 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 RCV004041616 SCV003709350 uncertain significance not specified 2022-11-08 criteria provided, single submitter clinical testing The c.1345G>A (p.V449M) alteration is located in exon 11 (coding exon 10) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 1345, causing the valine (V) at amino acid position 449 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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