ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.173T>C (p.Val58Ala)

gnomAD frequency: 0.00002  dbSNP: rs747222022
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002208776 SCV002495945 uncertain significance Shwachman-Diamond syndrome 1; Aplastic anemia 2021-03-16 criteria provided, single submitter clinical testing SBDS NM_016038.3 exon 2 p.Val58Ala (c.173T>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV003101220 SCV003548066 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.173T>C (p.V58A) alteration is located in exon 2 (coding exon 2) of the SBDS gene. This alteration results from a T to C substitution at nucleotide position 173, causing the valine (V) at amino acid position 58 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.