ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser)

gnomAD frequency: 0.00006  dbSNP: rs368353579
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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 RCV001976421 SCV002263501 uncertain significance Epilepsy, familial adult myoclonic, 5 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 130 of the CNTN2 protein (p.Gly130Ser). This variant is present in population databases (rs368353579, gnomAD 0.04%). 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: 1475671). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CNTN2 protein function with a negative predictive value of 95%. 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 RCV004042297 SCV003587654 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.388G>A (p.G130S) alteration is located in exon 4 (coding exon 3) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 388, causing the glycine (G) at amino acid position 130 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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