ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.375+10G>T

dbSNP: rs8177971
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101482 SCV001258096 likely benign Pyruvate kinase deficiency of red cells 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001101482 SCV001435280 benign Pyruvate kinase deficiency of red cells criteria provided, single submitter research The heterozygous c.375+10G>T variant in PKLR has been identified in at least 2 individuals with pyruvate kinase deficiency, but was in cis to a missense variant in at least 1 family (PMID: 16704447). This variant has also been identified in >2% of European (Finnish) chromosomes and 23 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive pyruvate kinase deficiency.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811655 SCV001477701 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001811655 SCV002386753 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811655 SCV004124923 benign not provided 2024-11-01 criteria provided, single submitter clinical testing PKLR: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001811655 SCV005262244 likely benign not provided criteria provided, single submitter not provided

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.