Submissions for variant NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)

gnomAD frequency: 0.00162  dbSNP: rs148329158

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000910768	SCV001055659	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001127518	SCV001286833	likely benign	Dyskeratosis congenita, autosomal recessive 3	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV001818828	SCV002069257	likely benign	not specified	2021-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002400006	SCV002707222	benign	Dyskeratosis congenita	2022-04-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000910768	SCV001928424	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000910768	SCV001966790	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000910768	SCV002037088	likely benign	not provided		no assertion criteria provided	clinical testing