Submissions for variant NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)

gnomAD frequency: 0.00355  dbSNP: rs113861754

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455177	SCV000540644	uncertain significance	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene associated with Haemophagocytic lymphohistiocytosis. This variant has been identified in the compound het state with a potential LOF in an individual with reduced levels of B-lymphocytes and IgGs (PMID 25502423).
Invitae	RCV000548831	SCV000638950	benign	Familial hemophagocytic lymphohistiocytosis 3	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000548831	SCV001283019	uncertain significance	Familial hemophagocytic lymphohistiocytosis 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001703174	SCV001961726	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	UNC13D: BP4, BS1
Genetic Services Laboratory, University of Chicago	RCV000455177	SCV002066307	likely benign	not specified	2021-12-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263693	SCV002543024	uncertain significance	Autoinflammatory syndrome	2021-04-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912793	SCV004731949	likely benign	UNC13D-related disorder	2022-07-28	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703174	SCV001931463	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703174	SCV001970946	likely benign	not provided		no assertion criteria provided	clinical testing