ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2195C>T (p.Thr732Met)

gnomAD frequency: 0.00006  dbSNP: rs201360629
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001915162 SCV002168066 uncertain significance not provided 2023-04-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs201360629, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 732 of the CFH protein (p.Thr732Met). This missense change has been observed in individual(s) with focal and segmental glomerulosclerosis (PMID: 22594991). 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 methionine 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: 1398643).
Fulgent Genetics, Fulgent Genetics RCV002490181 SCV002775708 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452093 SCV004177286 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452096 SCV004177287 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452095 SCV004177288 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452094 SCV004177289 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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