ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)

dbSNP: rs1567214097
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000779605 SCV001146828 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-10-02 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder with or without variable brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6, PP3, PS3-Moderate, PS4-Supporting.
Institute of Human Genetics, University of Leipzig Medical Center RCV000779605 SCV001335371 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-02-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000779605 SCV001429927 pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2020-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266867 SCV001445047 pathogenic Inborn genetic diseases 2019-07-03 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000779605 SCV002766744 pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2022-03-31 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: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with neurodevelopmental disorder with or without variable brain abnormalities (MIM#618443). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to cysteine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated WD40 repeated domain (DECIPHER). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. It has been reported de novo in at least five individuals with neurodevelopmental disorder with or without variable brain abnormalities (MIM#618443) and consistently classified as pathogenic by diagnostic laboratories in ClinVar (DECIPHER, PMID: 30612693, 30945334). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
OMIM RCV000779605 SCV000916283 pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-05-23 no assertion criteria provided literature only

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