Submissions for variant NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)

gnomAD frequency: 0.00009  dbSNP: rs138834145

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001095942	SCV001252122	uncertain significance	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294439	SCV002587701	uncertain significance	Atypical hemolytic-uremic syndrome	2022-02-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003456193	SCV004177499	uncertain significance	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing