ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1916G>T (p.Gly639Val)

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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 RCV004607474 SCV005107434 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.1916G>T (p.G639V) alteration is located in exon 13 (coding exon 13) of the CFH gene. This alteration results from a G to T substitution at nucleotide position 1916, causing the glycine (G) at amino acid position 639 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003778 SCV005630013 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-02-12 criteria provided, single submitter clinical testing

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