ClinVar Miner

Submissions for variant NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)

gnomAD frequency: 0.00041  dbSNP: rs146689036
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
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV000710019 SCV001622422 pathogenic Hearing loss, autosomal recessive 111 2021-05-13 criteria provided, single submitter clinical testing
3billion RCV000710019 SCV002058530 pathogenic Hearing loss, autosomal recessive 111 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: VCV000585269, PMID:29961571, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000397, PM2_M). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (3billion dataset, PM3_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000710019 SCV002762662 pathogenic Hearing loss, autosomal recessive 111 2022-12-13 criteria provided, single submitter clinical testing
OMIM RCV000710019 SCV000840384 pathogenic Hearing loss, autosomal recessive 111 2019-02-22 no assertion criteria provided literature only
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine RCV000710019 SCV000986688 pathogenic Hearing loss, autosomal recessive 111 2019-08-28 no assertion criteria provided research The variant, NM_005797.3:c.220C>T, was found in the observed patient which is segregated with ARNSHL. The patient showed a characteristic of moderate and progressive hearing loss and it was a sporadic case in his family.
Molecular Genetics laboratory, Necker Hospital RCV003325308 SCV004031295 likely pathogenic not provided 2018-04-12 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.