Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
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. |