ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294715 SCV002587698 uncertain significance Atypical hemolytic-uremic syndrome 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774992 SCV004623545 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 697 of the CFH protein (p.Leu697Phe). This variant is present in population databases (rs201961184, gnomAD 0.09%). 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: 1712460). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004047634 SCV004923719 uncertain significance Inborn genetic diseases 2023-11-20 criteria provided, single submitter clinical testing The c.2089C>T (p.L697F) alteration is located in exon 14 (coding exon 14) of the CFH gene. This alteration results from a C to T substitution at nucleotide position 2089, causing the leucine (L) at amino acid position 697 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005002821 SCV005630065 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-01-24 criteria provided, single submitter clinical testing

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