ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)

dbSNP: rs587777862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV000144709 SCV002073745 likely pathogenic Developmental and epileptic encephalopathy, 31 2022-02-05 criteria provided, single submitter clinical testing The c.1076G>C;p.(Gly359Ala) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 156559; OMIM: 602377.0003; PMID: 25262651) - PS4_supporting. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 27066543) - PS3_supporting. The variant is located in a mutational hot spot and/or critical and well-established functional domain (Dynamin) - PM1. This variant is not present in population databases (rs587777862; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Pathogenic missense variant in this residue have been reported (ClinVar ID: 520737 - c.1075G>A;p.(Gly359Arg)) - PM5. The variant was assumed de novo; but without confirmation of paternity and maternity (PMID: 25262651) - PM6. 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 likely pathogenic.
OMIM RCV000144709 SCV000190703 pathogenic Developmental and epileptic encephalopathy, 31 2014-10-02 no assertion criteria provided literature only

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