ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2563G>A (p.Asp855Asn)

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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 RCV003361269 SCV004064424 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.2563G>A (p.D855N) alteration is located in exon 16 (coding exon 16) of the CFH gene. This alteration results from a G to A substitution at nucleotide position 2563, causing the aspartic acid (D) at amino acid position 855 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012894 SCV005632058 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-04-25 criteria provided, single submitter clinical testing

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