ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)

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
Invitae RCV002968139 SCV003287700 uncertain significance PHGDH deficiency 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 37 of the PHGDH protein (p.Ser37Gly). This variant is present in population databases (rs756952465, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. 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 tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003250672 SCV003946501 uncertain significance Inborn genetic diseases 2023-04-27 criteria provided, single submitter clinical testing The c.109A>G (p.S37G) alteration is located in exon 1 (coding exon 1) of the PHGDH gene. This alteration results from a A to G substitution at nucleotide position 109, causing the serine (S) at amino acid position 37 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340578 SCV004049036 uncertain significance Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002968139 SCV004049037 uncertain significance PHGDH deficiency 2023-04-11 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.