ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.442G>A (p.Asp148Asn)

gnomAD frequency: 0.00001  dbSNP: rs757289663
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003386087 SCV004088233 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.442G>A (p.D148N) alteration is located in exon 5 (coding exon 5) of the APOB gene. This alteration results from a G to A substitution at nucleotide position 442, causing the aspartic acid (D) at amino acid position 148 to be replaced by an asparagine (N). 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.