Submissions for variant NM_001143992.2(WRAP53):c.807C>T (p.Arg269=)

gnomAD frequency: 0.00385  dbSNP: rs35307405

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Johns Hopkins Genomics, Johns Hopkins University	RCV000758244	SCV000886884	likely benign	Dyskeratosis congenita, autosomal recessive 3	2019-02-12	criteria provided, single submitter	clinical testing
Invitae	RCV000971645	SCV001119301	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000758244	SCV001283360	benign	Dyskeratosis congenita, autosomal recessive 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago	RCV001816813	SCV002069223	benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002422639	SCV002678472	likely benign	Dyskeratosis congenita	2022-04-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.