ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)

gnomAD frequency: 0.00002  dbSNP: rs755928805
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048133 SCV002292805 uncertain significance not provided 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 638 of the CFH protein (p.Asn638Ser). This variant is present in population databases (rs755928805, gnomAD 0.01%). 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: 1507675). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The serine 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.
Baylor Genetics RCV003333202 SCV004041125 uncertain significance Factor H deficiency 2023-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453962 SCV004180847 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453964 SCV004180848 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453963 SCV004180849 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003333202 SCV004180850 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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