ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly)

gnomAD frequency: 0.00001  dbSNP: rs1283689984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328249 SCV001449227 uncertain significance Atypical hemolytic-uremic syndrome 2018-10-25 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.707A>G p.(Asp236Gly), in the CFHR5 gene. To our knowledge, this variant has not been previously reported in the literature and no frequency data is available. In silico analysis (Alamut Visual v2.4) is inconclusive regarding this variant PolyPhen2 and MutationTaster predicts to be benign whereas SIFT, Align GVGD and KD4v predicts to be pathogenic. Alamut v2.4 also predicts this variant does not affect splicing.

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