ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.806C>T (p.Thr269Met)

dbSNP: rs773849106
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001425587 SCV001628219 likely benign Spongy degeneration of central nervous system 2024-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035300 SCV004910622 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.806C>T (p.T269M) alteration is located in exon 6 (coding exon 6) of the ASPA gene. This alteration results from a C to T substitution at nucleotide position 806, causing the threonine (T) at amino acid position 269 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Molecular Biology and Genetics, Acibadem University RCV001251015 SCV001424925 uncertain significance Fraser syndrome 3 no assertion criteria provided research

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.