ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1885_1893+8del

dbSNP: rs2513349078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003447417 SCV005838002 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2024-03-07 criteria provided, single submitter clinical testing This variant results in the deletion of c.1885_1893+8del of the DNM2 gene. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 23 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal dominant centronuclear myopathy and/or DNM2-related conditions (PMID: 22396310, 37273706). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2664457). Studies have shown that this variant results in the activation of a cryptic splice site in intron 17 (PMID: 22396310). 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.
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447417 SCV004174769 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2016-01-06 no assertion criteria provided literature only

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