ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294696 SCV002587597 likely benign Atypical hemolytic-uremic syndrome 2022-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003250500 SCV003944241 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.683G>C (p.G228A) alteration is located in exon 5 (coding exon 5) of the CFHR5 gene. This alteration results from a G to C substitution at nucleotide position 683, causing the glycine (G) at amino acid position 228 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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