Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169954 | SCV001251788 | likely pathogenic | not provided | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002249751 | SCV002517144 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003259134 | SCV003970231 | uncertain significance | Inborn genetic diseases | 2023-06-01 | criteria provided, single submitter | clinical testing | The c.448A>C (p.N150H) alteration is located in exon 4 (coding exon 4) of the GNAO1 gene. This alteration results from a A to C substitution at nucleotide position 448, causing the asparagine (N) at amino acid position 150 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003339523 | SCV004047649 | uncertain significance | Neurodevelopmental disorder with involuntary movements | criteria provided, single submitter | clinical testing | The GNAO1 c.448A>C(p.Asn150His) has been submitted to ClinVar as a Likely Pathogenic, but no details are available for independent assessment. The p.Asn150His variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid change p.Asn150His in GNAO1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asn at position 150 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS). |