ClinVar Miner

Submissions for variant NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly)

gnomAD frequency: 0.00015  dbSNP: rs138639141
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645983 SCV000767738 uncertain significance Compton-North congenital myopathy 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 215 of the CNTN1 protein (p.Ser215Gly). This variant is present in population databases (rs138639141, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CNTN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 537191). 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 CNTN1 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.
GeneDx RCV001551768 SCV001772341 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002528919 SCV003694309 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.643A>G (p.S215G) alteration is located in exon 7 (coding exon 6) of the CNTN1 gene. This alteration results from a A to G substitution at nucleotide position 643, causing the serine (S) at amino acid position 215 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV000645983 SCV004037548 not provided Compton-North congenital myopathy no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 11-27-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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