ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter)

gnomAD frequency: 0.00001  dbSNP: rs759960319
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000755658 SCV002761519 likely pathogenic Infantile liver failure syndrome 2 2021-05-18 criteria provided, single submitter clinical testing The NBAS c.1501C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 501 (PVS1). This variant has been identified in a patient with short stature, hypogammaglobinaemia, ocular involvement, and elevated liver transaminases (PMID:30825388) (PS4_mod). This variant is in dbSNP (rs759960319) but is rare in population databases (gnomAD 4/251424, 0 homozygotes). This variant has been reported in ClinVar as pathogenic for Infantile liver failure syndrome 2 by another diagnostic laboratory (ClinVar Variation ID: 609275). The NBAS c.1501C>T variant is classified as LIKELY PATHOGENIC (PS4_mod, PVS1)
Invitae RCV003117538 SCV003786370 pathogenic not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg501*) in the NBAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBAS are known to be pathogenic (PMID: 26073778, 26541327, 27789416, 28031453). This variant is present in population databases (rs759960319, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with NBAS-related conditions (PMID: 30825388). ClinVar contains an entry for this variant (Variation ID: 617878). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, University of Torino RCV000755658 SCV000882687 pathogenic Infantile liver failure syndrome 2 2018-11-07 no assertion criteria provided clinical testing Found in compound heterozygosity with c.6840G>A

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.