Submissions for variant NM_001111.5(ADAR):c.2668+6T>C

gnomAD frequency: 0.00135  dbSNP: rs190881240

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000286952	SCV000348543	benign	Symmetrical dyschromatosis of extremities	2018-01-12	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000650242	SCV000772082	benign	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2024-01-31	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000650242	SCV000898517	uncertain significance	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2021-03-30	criteria provided, single submitter	clinical testing	ADAR NM_001111.4 exon 8 c.2668+6T>C: This variant has not been reported in the literature but is present in 0.5% (161/30782) of South Asian alleles, including 5 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs190881240). This variant is present in ClinVar (Variation ID:292766). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV000859489	SCV001147434	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ADAR: BP4, BS2
GeneDx	RCV000859489	SCV001792083	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000859489	SCV001931669	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000859489	SCV001965417	likely benign	not provided		no assertion criteria provided	clinical testing