ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1707A>G (p.Gly569=)

dbSNP: rs942456904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045588 SCV001209451 uncertain significance Giant axonal neuropathy 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change affects codon 569 of the GAN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GAN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GAN-related conditions. 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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