Submissions for variant NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del)

dbSNP: rs886045282

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000269484	SCV000348305	uncertain significance	MHC class II deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000269484	SCV001558501	uncertain significance	MHC class II deficiency	2020-02-21	criteria provided, single submitter	clinical testing	This variant, c.1661_1663del, results in the deletion of 1 amino acid(s) of the RFX5 protein (p.Ala554del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RFX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 292609). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab	RCV000269484	SCV004049743	uncertain significance	MHC class II deficiency	2023-04-11	criteria provided, single submitter	clinical testing