Submissions for variant NM_000397.4(CYBB):c.1244C>A (p.Pro415His)

dbSNP: rs137854585

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000059237	SCV001246677	pathogenic	not provided	2019-04-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001385155	SCV001584916	pathogenic	Granulomatous disease, chronic, X-linked	2020-03-03	criteria provided, single submitter	clinical testing	This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 2556453, 11162142). ClinVar contains an entry for this variant (Variation ID: 10920). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro415 amino acid residue in CYBB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11162142, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect CYBB protein function (PMID: 20724480). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with histidine at codon 415 of the CYBB protein (p.Pro415His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine.
OMIM	RCV000011667	SCV000031899	pathogenic	Granulomatous disease, chronic, X-linked, variant	2019-02-19	no assertion criteria provided	literature only
UniProtKB/Swiss-Prot	RCV000059237	SCV000090766	not provided	not provided		no assertion provided	not provided