ClinVar Miner

Submissions for variant NM_030787.3(CFHR5):c.622T>C (p.Cys208Arg) (rs41299613)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000407216 SCV000329243 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing The C208R variant in the CFHR5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The NHLBI ESP Exome Sequencing Project reports C208R was observed in 19/8598 (0.22%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The C208R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret C208R as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000346086 SCV000352561 uncertain significance CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 2018-01-13 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.
Invitae RCV000407216 SCV001029011 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171349 SCV001328296 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, PP5, BS1
Mayo Clinic Laboratories, Mayo Clinic RCV000407216 SCV001715642 uncertain significance not provided 2019-11-24 criteria provided, single submitter clinical testing

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