ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys)

dbSNP: rs1835087040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224103 SCV001396281 likely pathogenic Developmental and epileptic encephalopathy, 31A 2024-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 368 of the DNM1 protein (p.Glu368Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of DNM1-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 952061). 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 not expected to disrupt DNM1 protein function with a negative predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001664765 SCV001875037 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001224103 SCV005368456 likely pathogenic Developmental and epileptic encephalopathy, 31A 2023-01-02 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM2_SUP,PM1,PP3

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