ClinVar Miner

Submissions for variant NM_001201550.3(CFHR4):c.1235G>A (p.Arg412Gln)

gnomAD frequency: 0.00017  dbSNP: rs200135698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930390 SCV001076042 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818898 SCV002065588 likely benign not specified 2018-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001818898 SCV003710721 uncertain significance not specified 2022-07-12 criteria provided, single submitter clinical testing The c.1235G>A (p.R412Q) alteration is located in exon 8 (coding exon 8) of the CFHR4 gene. This alteration results from a G to A substitution at nucleotide position 1235, causing the arginine (R) at amino acid position 412 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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