ClinVar Miner

Submissions for variant NM_000064.4(C3):c.941C>T (p.Pro314Leu)

gnomAD frequency: 0.13563  dbSNP: rs1047286
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321048 SCV000415095 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000380392 SCV000415096 benign 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000286026 SCV000415097 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515572 SCV001723669 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001515572 SCV001867862 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30131807, 19168221, 24736606, 24036950, 21784901, 25688879)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002293985 SCV002587288 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371776 SCV002685018 benign Inborn genetic diseases 2015-01-23 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001515572 SCV005312465 benign not provided criteria provided, single submitter not provided
OMIM RCV000018586 SCV000038869 benign C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE 1990-10-01 no assertion criteria provided literature only

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