ClinVar Miner

Submissions for variant NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002306289 SCV005086779 pathogenic Developmental and epileptic encephalopathy 108 2023-12-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. 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 108 (MIM#620115) (PMID: 34185323). (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 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 high conservation. (I) 0600 - Variant is located in the annotated serine/threonine kinase (STK) domain (PMID: 34185323). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. It has been detected in individuals with developmental delay and epileptic encephalopathy, and shown to be de novo in at least two families (PMIDs: 34185323, 35095415). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Institute of Human Genetics, University of Leipzig Medical Center RCV002306289 SCV005423772 pathogenic Developmental and epileptic encephalopathy 108 2024-11-21 criteria provided, single submitter clinical testing Criteria applied: PS2_VSTR,PS3_SUP,PS4_MOD,PM2_SUP,PP2,PP3
OMIM RCV002306289 SCV002600207 pathogenic Developmental and epileptic encephalopathy 108 2022-11-10 no assertion criteria provided literature only

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