ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.162G>C (p.Arg54=)

dbSNP: rs762111033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299346 SCV001488431 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2023-09-18 criteria provided, single submitter clinical testing This sequence change affects codon 54 of the DNM2 mRNA. It is a 'silent' change, meaning that it does not 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 (rs762111033, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of DNM2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1002867). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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