Submissions for variant NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)

gnomAD frequency: 0.00416  dbSNP: rs147756847

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246972	SCV000301979	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321335	SCV000355741	uncertain significance	Chédiak-Higashi syndrome	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000584895	SCV000692671	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LYST: BP4, BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000321335	SCV000745217	likely benign	Chédiak-Higashi syndrome	2016-04-13	criteria provided, single submitter	clinical testing
Invitae	RCV000321335	SCV000750167	benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000246972	SCV002065519	likely benign	not specified	2018-09-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262867	SCV002543356	benign	Autoinflammatory syndrome	2020-09-17	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000321335	SCV003920174	likely benign	Chédiak-Higashi syndrome	2022-08-23	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 3.3% [338/10366]; including in 7 homozygotes; https://gnomad.broadinstitute.org/variant/1-235922671-T-G?dataset=gnomad_r2_1), and in ClinVar, with several laboratories classifying it as benign or likely benign (Variation ID: 254931). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Clinical Genetics, Academic Medical Center	RCV000246972	SCV001921065	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246972	SCV001959716	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000584895	SCV002036475	likely benign	not provided		no assertion criteria provided	clinical testing