Submissions for variant NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)

dbSNP: rs786205483

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000171218	SCV000490774	likely pathogenic	not provided	2016-02-22	criteria provided, single submitter	clinical testing	The D119G variant in the RNASEH2B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D119G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D119G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The D119G variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000492016	SCV001438954	likely pathogenic	Aicardi-Goutieres syndrome 2		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000492016	SCV002019057	likely pathogenic	Aicardi-Goutieres syndrome 2	2021-01-21	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000492016	SCV005038911	pathogenic	Aicardi-Goutieres syndrome 2	2024-03-21	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000171218	SCV000221415	likely pathogenic	not provided		flagged submission	research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000492016	SCV000282191	pathogenic	Aicardi-Goutieres syndrome 2	2016-01-10	no assertion criteria provided	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000492016	SCV001133171	likely pathogenic	Aicardi-Goutieres syndrome 2	2019-09-26	no assertion criteria provided	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003987401	SCV004805189	pathogenic	Aicardi-Goutieres syndrome 1	2024-03-17	flagged submission	research