ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2292-8C>A

dbSNP: rs757620658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195942 SCV001366366 uncertain significance Autosomal dominant centronuclear myopathy 2019-01-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV003617917 SCV004393172 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-10-28 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the DNM2 gene. It does not directly change the encoded amino acid sequence of the DNM2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930350). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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