ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)

dbSNP: rs1833622746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243961 SCV001417153 pathogenic Developmental and epileptic encephalopathy, 31A 2025-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 43 of the DNM1 protein (p.Gly43Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant developmental and epileptic encephalopathy (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 968753). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DNM1 protein function with a positive predictive value of 80%. This variant disrupts the p.Gly43 amino acid residue in DNM1. Other variant(s) that disrupt this residue have been observed in individuals with DNM1-related conditions (PMID: 26611353, 28667181), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV001243961 SCV001760228 likely pathogenic Developmental and epileptic encephalopathy, 31A no assertion criteria provided clinical testing

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