Submissions for variant NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)

gnomAD frequency: 0.00071  dbSNP: rs143483053

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163434	SCV000213980	likely benign	Hereditary cancer-predisposing syndrome	2018-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226709	SCV000291455	benign	Birt-Hogg-Dube syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374324	SCV000401004	likely benign	Familial spontaneous pneumothorax	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.
Illumina Laboratory Services, Illumina	RCV000226709	SCV000401005	likely benign	Birt-Hogg-Dube syndrome	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000034797	SCV000724487	likely benign	not provided	2021-08-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28873162, 24728327, 22703879, 14627671, 27146957, 20522427, 21794948)
Sema4, Sema4	RCV000163434	SCV002532385	likely benign	Hereditary cancer-predisposing syndrome	2020-10-22	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000121114	SCV002551343	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000121114	SCV002774745	benign	not specified	2021-06-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000226709	SCV004018702	benign	Birt-Hogg-Dube syndrome	2023-07-06	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000034797	SCV004142320	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FLCN: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000034797	SCV005212263	likely benign	not provided		criteria provided, single submitter	not provided
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034797	SCV000043265	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
ITMI	RCV000121114	SCV000085282	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000034797	SCV001809541	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000034797	SCV001953426	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952399	SCV004772529	likely benign	FLCN-related disorder	2020-09-15	no assertion criteria provided	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).