ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) (rs121918648)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004906 SCV001164406 likely pathogenic Spherocytosis type 2 2018-12-03 criteria provided, single submitter research The heterozygous p.Ser2019Pro variant in SPTB was identified by our study in three unrelated individuals with spherocytosis. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. The p.Ser2019Pro variant in SPTB has been reported in 8 Laotian individuals with spherocytosis and segregated with disease in the homozygous or heterozygous state in 7 affected relatives from a two-generation family. The genotype of one affected individual was unknown. All individuals known to be homozygous for the variant were stillborn or died shortly after birth while all individuals known to be heterozygous for the variant had mild elliptocytosis (PMID: 7883966). This variant is located in the self-association region of the protein, a common site of pathogenic variation for hereditary elliptocytosis (PMID: 8844207). In summary, although additional studies are required to fully establish its clinical significance, the p.Ser2019Pro variant is likely pathogenic. ACMG/AMP Criteria applied: PM1, PM2, PP1_Moderate (Richards 2015).
OMIM RCV000013688 SCV000033935 pathogenic Elliptocytosis 3 2018-04-25 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.