Submissions for variant NM_199242.3(UNC13D):c.114G>A (p.Pro38=)

gnomAD frequency: 0.00019  dbSNP: rs755103812

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000894710	SCV001038712	likely benign	Familial hemophagocytic lymphohistiocytosis 3	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000894710	SCV001283243	uncertain significance	Familial hemophagocytic lymphohistiocytosis 3	2018-01-13	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.
Genetic Services Laboratory, University of Chicago	RCV001818699	SCV002069411	likely benign	not specified	2021-12-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002264063	SCV002543123	uncertain significance	Autoinflammatory syndrome	2020-08-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920825	SCV004732194	likely benign	UNC13D-related disorder	2019-04-30	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).