ClinVar Miner

Submissions for variant NM_198681.4(PLEKHG5):c.-120C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001357159 SCV001712957 uncertain significance not provided 2020-10-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357159 SCV001552531 uncertain significance not provided no assertion criteria provided clinical testing The PLEKHG5 p.Pro40Ser variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs201669114) and in control databases in 362 of 271658 chromosomes (1 homozygous) at a frequency of 0.001333 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: European (non-Finnish) in 304 of 123808 chromosomes (freq: 0.002455), Ashkenazi Jewish in 17 of 10068 chromosomes (freq: 0.001689), Other in 7 of 6866 chromosomes (freq: 0.00102), Latino in 19 of 34140 chromosomes (freq: 0.000557), European (Finnish) in 8 of 24888 chromosomes (freq: 0.000321), African in 6 of 23608 chromosomes (freq: 0.000254) and South Asian in 1 of 29698 chromosomes (freq: 0.000034), but was not observed in the East Asian population. The p.Pro40 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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.