Submissions for variant NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)

gnomAD frequency: 0.00086  dbSNP: rs113209379

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000499765	SCV000595659	uncertain significance	not specified	2017-03-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096400	SCV001252603	uncertain significance	Chédiak-Higashi syndrome	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV001096400	SCV001707979	likely benign	Chédiak-Higashi syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263707	SCV002543666	likely benign	Autoinflammatory syndrome	2020-09-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003403167	SCV004120585	likely benign	LYST-related disorder	2023-11-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic	RCV001573797	SCV004224807	uncertain significance	not provided	2022-04-18	criteria provided, single submitter	clinical testing	BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573797	SCV001800177	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573797	SCV001969947	uncertain significance	not provided		no assertion criteria provided	clinical testing