ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys)

dbSNP: rs866472917
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811789 SCV002050228 pathogenic not provided 2021-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811789 SCV003523451 likely pathogenic not provided 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 407 of the PKLR protein (p.Glu407Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with PKLR-related conditions (PMID: 16704447, 18759866). ClinVar contains an entry for this variant (Variation ID: 1330664). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV001811789 SCV004238590 likely pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing

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.