Submissions for variant NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)

gnomAD frequency: 0.00042  dbSNP: rs148403790

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001821956	SCV002066580	likely benign	not specified	2020-04-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001699697	SCV002137545	uncertain significance	not provided	2024-11-11	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 693 of the CFH protein (p.Asp693Asn). This variant is present in population databases (rs148403790, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1284671). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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	RCV001699697	SCV004224711	uncertain significance	not provided	2022-02-15	criteria provided, single submitter	clinical testing	BP4
Clinical Genetics, Academic Medical Center	RCV001699697	SCV001921285	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699697	SCV001972069	likely benign	not provided		no assertion criteria provided	clinical testing