ClinVar Miner

Submissions for variant NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)

gnomAD frequency: 0.00001  dbSNP: rs749969789
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000723367 SCV001245382 likely pathogenic Intellectual disability, autosomal recessive 66 2020-02-14 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Mental retardation, autosomal recessive 66. The following ACMG Tag(s) were applied: PM2, PVS1-Strong.
Institute of Human Genetics, University of Leipzig Medical Center RCV000723367 SCV001443032 pathogenic Intellectual disability, autosomal recessive 66 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3_Supporting
3billion RCV000723367 SCV002058748 pathogenic Intellectual disability, autosomal recessive 66 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000592164, PMID:28097321). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000025, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV003235375 SCV003933250 pathogenic not provided 2024-04-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28097321)
OMIM RCV000723367 SCV000854767 pathogenic Intellectual disability, autosomal recessive 66 2021-12-22 no assertion criteria provided literature only

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.