ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser)

gnomAD frequency: 0.00004  dbSNP: rs376295895
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
Invitae RCV001306752 SCV001496134 likely benign Schimke immuno-osseous dysplasia 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001306752 SCV002784723 uncertain significance Schimke immuno-osseous dysplasia 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543177 SCV003749144 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.448G>T (p.A150S) alteration is located in exon 3 (coding exon 1) of the SMARCAL1 gene. This alteration results from a G to T substitution at nucleotide position 448, causing the alanine (A) at amino acid position 150 to be replaced by a serine (S). 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.