ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3220C>T (p.Arg1074Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003372446 SCV004095413 uncertain significance Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing The c.3220C>T (p.R1074C) alteration is located in exon 20 (coding exon 20) of the CFH gene. This alteration results from a C to T substitution at nucleotide position 3220, causing the arginine (R) at amino acid position 1074 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003061 SCV005633874 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-05-14 criteria provided, single submitter clinical testing

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