Submissions for variant NM_000143.4(FH):c.302G>A (p.Arg101Gln)

gnomAD frequency: 0.00004  dbSNP: rs75086406

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001546164	SCV000544284	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018184	SCV001179383	likely benign	Hereditary cancer-predisposing syndrome	2022-11-04	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.
GeneDx	RCV001546164	SCV001765635	uncertain significance	not provided	2024-05-22	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in individuals with renal and other cancers (PMID: 26580448, 30548481, 32019277); This variant is associated with the following publications: (PMID: 28125078, 26580448, 30548481, 32019277, 38376408)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320644	SCV004025215	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000466487	SCV004197315	uncertain significance	Fumarase deficiency	2023-11-26	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000466487	SCV002085882	uncertain significance	Fumarase deficiency	2020-02-28	no assertion criteria provided	clinical testing