ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.295del (p.Val99fs)

dbSNP: rs1907272370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211585 SCV001383130 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CYBA protein in which other variant(s) (p.Glu129*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 941734). This variant has not been reported in the literature in individuals affected with CYBA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val99Cysfs*92) in the CYBA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acid(s) of the CYBA protein.

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