ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003590102 SCV004320583 pathogenic Developmental and epileptic encephalopathy, 31A 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 66 of the DNM1 protein (p.Arg66Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with 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: 2755885). 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%. For these reasons, this variant has been classified as Pathogenic.

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