ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2675C>T (p.Ala892Val)

gnomAD frequency: 0.00017  dbSNP: rs151068461
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900028 SCV002123923 uncertain significance not provided 2025-01-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 892 of the CFH protein (p.Ala892Val). This variant is present in population databases (rs151068461, gnomAD 0.02%). This missense change has been observed in individual(s) with hemolytic uremic syndrome (PMID: 37466676). ClinVar contains an entry for this variant (Variation ID: 1362138). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294489 SCV002587665 uncertain significance Atypical hemolytic-uremic syndrome 2020-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452008 SCV004177344 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456248 SCV004177345 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452010 SCV004177346 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452009 SCV004177347 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006113 SCV005632111 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-04-23 criteria provided, single submitter clinical testing

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