ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)

gnomAD frequency: 0.00001  dbSNP: rs754225887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813861 SCV000954242 uncertain significance Brown-Vialetto-van Laere syndrome 1 2018-11-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLC52A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 442 of the SLC52A3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC52A3 protein. 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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