ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)

dbSNP: rs1554767313
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623376 SCV000740680 pathogenic Inborn genetic diseases 2015-11-30 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001823739 SCV002073490 pathogenic Developmental and epileptic encephalopathy, 31A criteria provided, single submitter clinical testing The missense variant p.G43S in DNM1 (NM_004408.4) has been previously reported as a de novo mutation in a patient with Lennox Gestaut syndrome.Protein modelling had revealed a damaging effect (Nakashima M et al,2016). The variant has been submitted to ClinVar as Pathogenic. The p.G43S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.G43S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.127 in DNM1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.
DASA RCV001823739 SCV002526388 pathogenic Developmental and epileptic encephalopathy, 31A 2022-06-10 criteria provided, single submitter clinical testing The c.127G>A;p.(Gly43Ser) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 520545; PMID: 26611353) - PS4. The variant was observed to have arisen de novo (paternity confirmed) in a patient with the disease and no family history (PMID: 26611353) - PS2. The variant is located in a mutational hot spot and/or critical and well-established functional domain (Dynamin_N) - PM1. This variant is not present in population databases:rs1554767313, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is Pathogenic
Genetics and Molecular Pathology, SA Pathology RCV001823739 SCV002556710 likely pathogenic Developmental and epileptic encephalopathy, 31A 2021-03-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001823739 SCV004801222 pathogenic Developmental and epileptic encephalopathy, 31A 2024-03-14 criteria provided, single submitter research

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