ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2291+5G>A

gnomAD frequency: 0.00002  dbSNP: rs747057769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050850 SCV001214979 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2023-12-22 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. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs747057769, gnomAD 0.01%). 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: 847325). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Revvity Omics, Revvity RCV003145295 SCV003830496 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing

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