ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)

gnomAD frequency: 0.00002  dbSNP: rs570523689
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857495 SCV002235243 uncertain significance not provided 2023-05-27 criteria provided, single submitter clinical testing 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CFH function (PMID: 34189567, 36445700). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 157562). This missense change has been observed in individual(s) with pneumonia, age-related macular degeneration or atypical hemolytic uremic syndrome (PMID: 24906858, 26501415, 29888403, 30295827, 32185379, 34508573, 35930268). This variant is present in population databases (rs570523689, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 503 of the CFH protein (p.Pro503Ala).
Mayo Clinic Laboratories, Mayo Clinic RCV001857495 SCV002541373 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294043 SCV002587705 uncertain significance Atypical hemolytic-uremic syndrome 2020-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453103 SCV004180796 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000144906 SCV004180797 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453105 SCV004180798 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453104 SCV004180799 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000144906 SCV000191908 risk factor Age related macular degeneration 4 2014-06-06 no assertion criteria provided literature only

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