ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) (rs794728004)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494398 SCV000583227 likely pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The c.1325_1326delTC variant in the SLC52A3 gene has been reported previously in the homozygous state and in the presence of another heterozygous SLC52A3 variant, in two related individuals with clinical features that include hypotonia, brisk reflexes in the lower limbs, bulbar palsy, and respiratory difficulties (Green et al., 2010). The c.1325_1326delTC variant causes a frameshift starting with codon Leucine 442, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Leu442ArgfsX64. This frameshift variant replaces the typical last 28 amino acid residues in the SLC52A3 protein with 63 different amino acid residues. This change is expected to alter the normal structure and function of the resultant protein. The c.1325_1326delTC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1325_1326delTC as a likely pathogenic variant.
OMIM RCV000000162 SCV000020305 pathogenic Brown-Vialetto-Van Laere syndrome 1 2010-03-12 no assertion criteria provided literature only
GeneReviews RCV000000162 SCV000246229 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.