Submissions for variant NM_007315.4(STAT1):c.1155G>A (p.Thr385=)

gnomAD frequency: 0.00280  dbSNP: rs41270237

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000280596	SCV000425817	likely benign	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652171	SCV000774039	benign	Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001815316	SCV002063986	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	STAT1: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago	RCV001821010	SCV002067937	benign	not specified	2021-11-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001815316	SCV005255954	likely benign	not provided		criteria provided, single submitter	not provided