ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.753del (p.Val252fs) (rs1568721373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761355 SCV000891341 likely pathogenic Brown-Vialetto-Van Laere syndrome 1 2016-09-16 criteria provided, single submitter clinical testing
Invitae RCV000761355 SCV001418346 pathogenic Brown-Vialetto-Van Laere syndrome 1 2019-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val252Trpfs*37) in the SLC52A3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC52A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 623230). Loss-of-function variants in SLC52A3 are known to be pathogenic (PMID: 20206331, 22824638, 25462087). For these reasons, this variant has been classified as Pathogenic.

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