Submissions for variant NM_000186.4(CFH):c.2850G>T (p.Gln950His)

gnomAD frequency: 0.00425  dbSNP: rs149474608

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000308622	SCV000352469	likely benign	Hemolytic uremic syndrome, atypical, susceptibility to, 1	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	RCV000367943	SCV000352470	likely benign	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	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	RCV000273876	SCV000352471	likely benign	Basal laminar drusen	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	RCV000333684	SCV000352472	likely benign	Age related macular degeneration 4	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.
Eurofins Ntd Llc (ga)	RCV000735110	SCV000863309	likely benign	not specified	2018-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000972577	SCV001120298	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000972577	SCV001147568	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CFH: BP4, BS2
GeneDx	RCV000972577	SCV001802414	uncertain significance	not provided	2020-02-17	criteria provided, single submitter	clinical testing	Reported in multiple individuals with atypical hemolytic uremic syndrome or age-related macular degeneration (Neumann et al., 2003; Caprioli et al., 2003; Maga et al., 2010; Sartz et al., 2012; van de Ven et al., 2013; Duvvari et al., 2016; Szarvas et al., 2016; Besbas et al., 2017; Seaby et al., 2017; Fidalgo et al., 2017; Gaut et al., 2017; Geerlings et al., 2018); Functional studies demonstrated moderately decreased cofactor function of factor H and somewhat decreased expression, but normal complement inhibitory function in fluid phase (Mohlin et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32424742, 31118930, 31865800, 30870849, 26826462, 23251215, 25733390, 29888403, 30046676, 30377230, 28589114, 29148534, 28056875, 26346198, 27007659, 23685748, 12960213, 22250080, 23660864, 18557729, 28752844, 20513133, 14583443)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294234	SCV002587675	likely benign	Atypical hemolytic-uremic syndrome	2021-01-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000735110	SCV004025200	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000972577	SCV002034030	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000972577	SCV002035024	likely benign	not provided		no assertion criteria provided	clinical testing