Submissions for variant NM_000064.4(C3):c.2203C>T (p.Arg735Trp)

gnomAD frequency: 0.00198  dbSNP: rs117793540

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000328876	SCV000415029	uncertain significance	Complement component 3 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV000381202	SCV000415030	benign	Atypical hemolytic-uremic syndrome with C3 anomaly	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000269843	SCV000415031	likely benign	Age related macular degeneration 9	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.
Genetic Services Laboratory, University of Chicago	RCV001820994	SCV002066461	likely benign	not specified	2018-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057536	SCV002321883	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002057536	SCV002541480	uncertain significance	not provided	2022-06-29	criteria provided, single submitter	clinical testing	BS3
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294280	SCV002587567	uncertain significance	Atypical hemolytic-uremic syndrome	2022-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002057536	SCV004146411	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	C3: BP4, BS1, BS2
GeneDx	RCV002057536	SCV005390525	uncertain significance	not provided	2024-04-29	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21810760, 26638553, 35619721, 30890598, 31635417, 30377230, 18796626, 34169201, 33988670, 30131807, 35532072, 34647987, 23431077, 24036952, 25034031, 27939104, 24736606)