Submissions for variant NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)

gnomAD frequency: 0.00063  dbSNP: rs146451037

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000609736	SCV000384593	uncertain significance	Aicardi-Goutieres syndrome 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000487541	SCV000574956	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000609736	SCV000772062	likely benign	Aicardi-Goutieres syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000487541	SCV000843491	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609736	SCV000733350	likely benign	Aicardi-Goutieres syndrome 2		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000487541	SCV001930533	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487541	SCV001968512	likely benign	not provided		no assertion criteria provided	clinical testing