ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)

dbSNP: rs121913051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004529481 SCV000352534 uncertain significance CFH-related disorder 2017-04-27 criteria provided, single submitter clinical testing The CFH c.3643C>T (p.Arg1215Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Arg1215Ter variant is reported at a frequency of 0.00001 in the European (non-Finnish) population of the Exome Aggregation Consortium. This is based on one allele in an area of good seqeunce coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg1215Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for CFH-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Fulgent Genetics, Fulgent Genetics RCV005003620 SCV005632438 likely pathogenic Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-03-14 criteria provided, single submitter clinical testing

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