ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.627G>A (p.Glu209=)

gnomAD frequency: 0.00040  dbSNP: rs532550120
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194932 SCV000248545 uncertain significance not specified 2014-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348632 SCV000414351 uncertain significance Microcephaly, seizures, and developmental delay 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000726771 SCV000702930 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314842 SCV000847876 likely benign Inborn genetic diseases 2016-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001088141 SCV001008738 benign Developmental and epileptic encephalopathy, 12 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000726771 SCV001750821 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726771 SCV004140476 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PNKP: BP4, BP7

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.