Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002500570 | SCV002810955 | likely pathogenic | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 | 2022-03-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002516976 | SCV003524147 | uncertain significance | not provided | 2022-07-14 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 204583). This variant has been observed in individual(s) with clinical features of NBAS-related conditions (PMID: 26073778, 28031453, 34386911). This variant is not present in population databases (gnomAD no frequency). This variant, c.603_605del, results in the deletion of 1 amino acid(s) of the NBAS protein (p.Leu202del), but otherwise preserves the integrity of the reading frame. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226242 | SCV003923097 | uncertain significance | not specified | 2023-03-06 | criteria provided, single submitter | clinical testing | Variant summary: NBAS c.603_605delCCT (p.Leu202del) results in an in-frame deletion that is predicted to remove one amino acid, Leu202, from the N-terminal domain (IPR029145) of the encoded protein. The variant was absent in 251126 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.603_605delCCT has been reported in the literature in the compound heterozygous state in at least one individual affected with Infantile Acute Liver Failure (e.g. Haack_2015, Lenz_2021). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as either pathogenic (n=1)/likely pathogenic (n=1) or VUS (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Laboratory of Molecular Genetics |
RCV003389048 | SCV004101201 | pathogenic | Neurodevelopmental disorder | 2023-01-10 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000186580 | SCV000240156 | pathogenic | Infantile liver failure syndrome 2 | 2015-07-02 | no assertion criteria provided | literature only |