ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)

gnomAD frequency: 0.00040  dbSNP: rs142541718
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
Revvity Omics, Revvity RCV003138781 SCV003825739 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003138781 SCV004564425 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV005281367 SCV005943158 uncertain significance Inborn genetic diseases 2025-01-28 criteria provided, single submitter clinical testing The c.1523G>A (p.R508H) alteration is located in exon 11 (coding exon 11) of the SPTB gene. This alteration results from a G to A substitution at nucleotide position 1523, causing the arginine (R) at amino acid position 508 to be replaced by a histidine (H). 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.