Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262914 | SCV001440966 | likely pathogenic | Neurodevelopmental disorder | 2019-01-01 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV001267636 | SCV001593250 | likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2021-05-10 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive. The following ACMG Tag(s) were applied: For recessive disorders, detected in trans with a pathogenic variant (PM3); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Well-established functional studies show a deleterious effect (PS3). |
Revvity Omics, |
RCV001780213 | SCV002017890 | likely pathogenic | not provided | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252350 | SCV002522851 | likely pathogenic | See cases | 2021-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3, PM3, PP1, BP4 |
Ce |
RCV001780213 | SCV002563478 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | NARS1: PM3, PS3:Moderate, PM2:Supporting, BP4 |
Gene |
RCV001780213 | SCV002575226 | uncertain significance | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state along with a second variant in the NARS gene in siblings with microcephaly, seizures, intellectual disability, global developmental delay, and atrophy on brain MRI; however, familial segregation information is limited (Wang et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32788587, 33827397, 32738225) |
OMIM | RCV001267636 | SCV001445820 | pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2020-11-18 | no assertion criteria provided | literature only |