ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1949G>T (p.Gly650Val)

gnomAD frequency: 0.00021  dbSNP: rs143237092
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289073 SCV000352420 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2017-04-28 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 RCV000344087 SCV000352421 likely benign Age related macular degeneration 4 2017-04-28 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 RCV000403698 SCV000352422 likely benign CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 2017-04-28 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 RCV000309119 SCV000352423 likely benign Basal laminar drusen 2017-04-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001317993 SCV001508679 uncertain significance not provided 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 650 of the CFH protein (p.Gly650Val). This variant is present in population databases (rs143237092, gnomAD 0.04%). This missense change has been observed in individual(s) with glomerulonephritis C3 or age-related macular degeneration (PMID: 17018561, 23852337, 29888403). ClinVar contains an entry for this variant (Variation ID: 294497). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect CFH function (PMID: 34189567). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001317993 SCV002541406 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294228 SCV002587654 uncertain significance Atypical hemolytic-uremic syndrome 2021-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003619 SCV005630023 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-02-14 criteria provided, single submitter clinical testing

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