ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)

dbSNP: rs1589962586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001028017 SCV002505602 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2022-10-25 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PS4_SUP, PM1_SUP, PM2_SUP, PP2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001028017 SCV002766952 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely pathogenic. Following criteria are met: 0103 - Loss of function and dominant-negative are known mechanisms of disease in this gene and are associated with hypotonia, ataxia, and delayed development syndrome (MIM#617330) (GeneReviews). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to aspartic acid. (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) 0603 - Missense variant in a region that is highly intolerant to missense variation (high constraint region in DECIPHER). (SP) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0808 - Previous reports of pathogenicity for this variant are conflicting. It has been classified as likely pathogenic and a VUS by diagnostic laboratories in ClinVar. (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) 1204 - This variant has been shown to be de novo in the proband (parental status not tested but assumed). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028017 SCV001190781 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2020-02-05 no assertion criteria provided clinical testing

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