ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.586C>T (p.Gln196Ter)

gnomAD frequency: 0.00001  dbSNP: rs1131692171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000495259 SCV000583549 pathogenic Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2017-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558401 SCV004292059 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 430659). This premature translational stop signal has been observed in individual(s) with recurrent acute liver failure (PMID: 28629372). This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change creates a premature translational stop signal (p.Gln196*) 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).

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