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.
Invitae RCV003617917 SCV004393172 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-10-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 930350). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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.

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