ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.370A>G (p.Met124Val) (rs143373007)

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 Clinical Services Laboratory,Illumina RCV000286336 SCV000446381 uncertain significance Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000727655 SCV000617041 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing The M124V variant in the POU1F1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, an external variant database reports M124V was observed in 14/8600 alleles (0.16%) from individuals of European American background, indicating it may be a rare variant in this population. The M124V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M124V as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727655 SCV000854959 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764516 SCV000895598 uncertain significance Pituitary hormone deficiency, combined, 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000727655 SCV001034041 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000523099 SCV000805017 uncertain significance not specified 2009-02-09 no assertion criteria provided 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.