Submissions for variant NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter)

gnomAD frequency: 0.00004  dbSNP: rs143012720

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001390101	SCV001591722	pathogenic	not provided	2023-12-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu943*) 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 (rs143012720, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with SOPH syndrome and acute liver failure (PMID: 26073778, 28031453, 31761904). ClinVar contains an entry for this variant (Variation ID: 1076261). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001390101	SCV005079647	pathogenic	not provided	2023-07-07	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: 31980526, 34426522, 30825388, 27789416, 28031453, 26073778, 31761904, 26541327)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV004671382	SCV005093829	pathogenic	Infantile liver failure syndrome 2	2024-01-29	criteria provided, single submitter	research
Mayo Clinic Laboratories, Mayo Clinic	RCV001390101	SCV005414327	pathogenic	not provided	2023-11-09	criteria provided, single submitter	clinical testing	PM3, PVS1