ClinVar Miner

Submissions for variant NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val)

gnomAD frequency: 0.32987  dbSNP: rs396991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455498 SCV000539165 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Polymorphism that reportedly influences the strength of the antibody-dependent cellular cytotoxicity responses by NK cells. Associated with progression to end stage renal disease in lupus patients (17076550). NOT associated with suscepitibility to tuberculosis in Morrocan population (PMID 20439102)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455498 SCV004233416 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 46% of patients studied by a panel of primary immunodeficiencies. Number of patients: 44. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004710590 SCV005258004 likely benign not provided criteria provided, single submitter not provided

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