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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001900028 SCV002123923 uncertain significance not provided 2023-09-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1362138). This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is present in population databases (rs151068461, gnomAD 0.02%). 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).
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

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