ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1511C>T (p.Thr504Met)

dbSNP: rs377008918
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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 RCV002009309 SCV002292910 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 504 of the CFH protein (p.Thr504Met). This variant is present in population databases (rs377008918, gnomAD 0.02%). 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: 1507082). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002479755 SCV002786105 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161172 SCV003871511 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.1511C>T (p.T504M) alteration is located in exon 10 (coding exon 10) of the CFH gene. This alteration results from a C to T substitution at nucleotide position 1511, causing the threonine (T) at amino acid position 504 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003453958 SCV004180801 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453961 SCV004180802 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453960 SCV004180803 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453959 SCV004180804 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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