ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)

gnomAD frequency: 0.00035  dbSNP: rs149006687
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306405 SCV000340875 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332343 SCV000459340 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000306405 SCV001197768 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521967 SCV003532134 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.1405G>A (p.E469K) alteration is located in exon 11 (coding exon 10) of the MAK gene. This alteration results from a G to A substitution at nucleotide position 1405, causing the glutamic acid (E) at amino acid position 469 to be replaced by a lysine (K). 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.