ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.944A>G (p.Lys315Arg)

dbSNP: rs1564332523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795621 SCV002034863 uncertain significance Developmental and epileptic encephalopathy, 31A 2021-09-29 criteria provided, single submitter clinical testing The DNM1 c.944A>G (p.Lys315Arg) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1), though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the available evidence, the p.Lys315Arg variant is classified as a variant of uncertain significance for DNM1-related developmental and epileptic encephalopathy.

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