ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.946A>G (p.Asn316Asp)

gnomAD frequency: 0.00001  dbSNP: rs1214581005
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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 RCV001872102 SCV002120537 uncertain significance Developmental and epileptic encephalopathy, 31A 2021-05-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 316 of the DNM1 protein (p.Asn316Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant has not been reported in the literature in individuals with DNM1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNM1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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