ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)

gnomAD frequency: 0.00021  dbSNP: rs139701867
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
Eurofins Ntd Llc (ga) RCV000407599 SCV000344801 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524954 SCV000649966 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763938 SCV000894883 uncertain significance Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000407599 SCV002005009 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV000407599 SCV002771137 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518127 SCV003738465 uncertain significance Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing The c.269G>A (p.R90H) alteration is located in exon 4 (coding exon 3) of the POMGNT1 gene. This alteration results from a G to A substitution at nucleotide position 269, causing the arginine (R) at amino acid position 90 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275757 SCV001461207 uncertain significance Muscle eye brain disease 2020-09-16 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.