ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.214T>C (p.Tyr72His)

gnomAD frequency: 0.64973  dbSNP: rs4673
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249071 SCV000302283 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989646 SCV001140177 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989646 SCV001727890 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989646 SCV001737969 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001723534 SCV001950471 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30709874, 17383305, 21884584, 18799874, 19689263, 11023926, 15078863, 23821607, 22396743, 23409188, 25095657, 23040216, 9445163, 24339896, 24392120, 29132304, 29454792)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000249071 SCV002051157 benign not specified 2021-12-16 criteria provided, single submitter clinical testing Variant summary: CYBA c.214T>C (p.Tyr72His) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.7 in 250626 control chromosomes, suggesting that it is the major allele and therefore benign. The observed variant frequency is approximately 1139 fold of the estimated maximal expected allele frequency for a pathogenic variant in CYBA causing Chronic Granulomatous Disease phenotype (0.00061), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.214T>C in individuals affected with Chronic Granulomatous Disease and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters have assessed the clinical significance of this variant after 2014: four have classified the variant as benign and one as likely pathogenic. Based on the evidence outlined above, the variant was classified as benign.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000249071 SCV004232923 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 93% of patients studied by a panel of primary immunodeficiencies. Number of patients: 88. Only high quality variants are reported.
OMIM RCV000002351 SCV000022509 benign CYBA POLYMORPHISM 2009-07-01 no assertion criteria provided literature only
Institute of Clinical Molecular Biology, Kiel University RCV000736011 SCV000864164 likely pathogenic Very early onset inflammatory bowel disease 2018-11-06 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249071 SCV001744814 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000249071 SCV001932837 benign not specified no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001723534 SCV002074602 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.
Natera, Inc. RCV001826406 SCV002089439 benign Chronic granulomatous disease 2019-11-18 no assertion criteria provided clinical testing

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