ClinVar Miner

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

dbSNP: rs1568721373
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Total submissions: 3
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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 2023-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC52A3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 623230). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in SLC52A3 are known to be pathogenic (PMID: 20206331, 22824638, 25462087).
Ambry Genetics RCV002388384 SCV002672037 pathogenic Inborn genetic diseases 2021-03-20 criteria provided, single submitter clinical testing The c.753delC pathogenic mutation, located in coding exon 2 of the SLC52A3 gene, results from a deletion of one nucleotide at nucleotide position 753, causing a translational frameshift with a predicted alternate stop codon (p.V252Wfs*37). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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