Submissions for variant NM_144997.7(FLCN):c.1269C>T (p.His423=)

gnomAD frequency: 0.00053  dbSNP: rs41464156

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130346	SCV000185197	likely benign	Hereditary cancer-predisposing syndrome	2014-09-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000230490	SCV000291428	benign	Birt-Hogg-Dube syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230490	SCV000400996	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.
Illumina Laboratory Services, Illumina	RCV000308420	SCV000400997	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). 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	RCV000858339	SCV000724188	likely benign	not provided	2020-10-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19562744, 19116017, 21937013, 29357828)
CeGaT Center for Human Genetics Tuebingen	RCV000858339	SCV001151232	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FLCN: BP4, BP7
Sema4, Sema4	RCV000130346	SCV002530103	likely benign	Hereditary cancer-predisposing syndrome	2021-02-21	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267876	SCV002551331	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483262	SCV002802457	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2022-02-16	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000230490	SCV004015742	benign	Birt-Hogg-Dube syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000858339	SCV004218919	benign	not provided	2023-03-09	criteria provided, single submitter	clinical testing