Submissions for variant NM_000101.4(CYBA):c.74G>T (p.Gly25Val)

dbSNP: rs179363891

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002298460	SCV002598544	uncertain significance	not specified	2022-09-08	criteria provided, single submitter	clinical testing	Variant summary: CYBA c.74G>T (p.Gly25Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 246170 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.74G>T has been reported in the literature as a compound heterozygous genotype in at-least one individual affected with Chronic Granulomatous Disease in whom no protein could be detected in the patient's neutrophils (example, Rae_2000 cited in Roos_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
UniProtKB/Swiss-Prot	RCV000059047	SCV000090568	not provided	not provided		no assertion provided	not provided