ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter)

gnomAD frequency: 0.00001  dbSNP: rs772780646
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000782222 SCV002541506 uncertain significance not provided 2022-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456142 SCV004177512 uncertain significance CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000782222 SCV005847540 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln399*) in the CFHR5 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CFHR5 cause disease. This variant is present in population databases (rs772780646, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CFHR5-related conditions. ClinVar contains an entry for this variant (Variation ID: 632092). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Gharavi Laboratory, Columbia University RCV000782222 SCV000920709 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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