ClinVar Miner

Submissions for variant NM_000204.4(CFI):c.559C>T (p.Arg187Ter) (rs368615806)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778715 SCV000915070 likely pathogenic Atypical hemolytic-uremic syndrome 3 2018-12-10 criteria provided, single submitter clinical testing The CFI c.559C>T (p.Arg187Ter) is a stop-gained variant that is predicted to result in premature truncation of the protein. The p.Arg187Ter variant has been reported in a compound heterozygous state in three individuals from two unrelated families affected with CFI deficiency (Alba-Dominguez et al. 2012). The variant in each of the affected individuals was inherited from an unaffected heterozygous parent. Control data are unavailable for this variant, which is reported at a frequency of 0.000014 in the Total population of the Genome Aggregation Database. Based on the collective evidence and the potential impact of stop-gained variants, the p.Arg187Ter variant is classified as likely pathogenic for CFI-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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