ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.448A>C (p.Asn150His)

dbSNP: rs2037660713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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, Neuberg Centre for Genomic Medicine 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).

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