ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser)

dbSNP: rs1881066861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093321 SCV001250245 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV002464384 SCV002760065 likely pathogenic Developmental and epileptic encephalopathy 103 2022-11-29 criteria provided, single submitter research
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002464384 SCV005398775 uncertain significance Developmental and epileptic encephalopathy 103 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0101 - Gain of function is a known mechanism of disease in this gene and is associated with developmental and epileptic encephalopathy 103 (DEE; MIM#619913). Missense variants have been proven to result in signifcantly increased membrane potential and current, and reductions in channel deactivation time. Dominant negative was also demonstrated for a single, milder variant (PMID: 35314505). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from proline to serine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated sixth transmembrane segment within an ion transport domain (DECIPHER, PMID: 35314505). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been reported as a VUS (ClinVar), and also described as de novo in an individual with DEE; however, this report is not peer reviewed (Candelo, E. et al. (2021)). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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