Submissions for variant NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)

gnomAD frequency: 0.00223  dbSNP: rs146685901

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768128	SCV000899074	uncertain significance	Poikiloderma with neutropenia	2021-03-30	criteria provided, single submitter	clinical testing	USB1 NM_024598 exon 6 p.Cys214Tyr (c.641G>A): This variant has not been reported in the literature but is present in 0.7% (181/24028) of African alleles, including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs146685901). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970569	SCV001118157	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816823	SCV002070368	uncertain significance	not specified	2019-06-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000970569	SCV002541331	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing	BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000970569	SCV001740482	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000970569	SCV001975311	uncertain significance	not provided		no assertion criteria provided	clinical testing