ClinVar Miner

Submissions for variant NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter)

dbSNP: rs2138616482
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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 RCV001531047 SCV001745996 likely pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287501 SCV002577668 pathogenic Developmental and epileptic encephalopathy 97 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002287501 SCV005400379 uncertain significance Developmental and epileptic encephalopathy 97 2024-10-09 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: 0105 - The mechanism of disease for this gene is not clearly established. Variants clustering in the C-terminal nuclear localization signal motif have been reported to cause developmental and epileptic encephalopathy 97 (MIM#619561) (PMID: 33131106). Additionally, it has been suggested that haploinsufficiency variants may cause a milder phenotype that lacks the epileptic encephalopathy (PMID: 33131106). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (v2, v3 and v4). (SP) 0705 - No comparable NMD variants have previous evidence for pathogenicity. (I) 0802 - This variant has moderate previous evidence of pathogenicity in unrelated individuals. This variant has been previously reported as de novo in an individual with developmental delay and autistic/aggressive behaviour (personal communication with CeGaT laboratory). The variant is listed as likely pathogenic and pathogenic in ClinVar. (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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