Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000011686 | SCV004298946 | pathogenic | Granulomatous disease, chronic, X-linked | 2023-03-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in some transcripts that retain intron 1 (PMID: 10828042). Studies have shown that this variant alters CYBB gene expression (PMID: 10828042). ClinVar contains an entry for this variant (Variation ID: 10939). This variant has been observed in individuals with chronic granulomatous disease (PMID: 9585602; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the CYBB gene. It does not directly change the encoded amino acid sequence of the CYBB protein. It affects a nucleotide within the consensus splice site. |
OMIM | RCV000011686 | SCV000031918 | pathogenic | Granulomatous disease, chronic, X-linked | 2000-06-01 | no assertion criteria provided | literature only |