Submissions for variant NM_000061.3(BTK):c.894+1G>A

dbSNP: rs1064793859

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000480016	SCV000567193	pathogenic	not provided	2023-08-14	criteria provided, single submitter	clinical testing	Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 8090769)
3billion	RCV002250636	SCV002521053	pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	2022-05-22	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with BTK related disorder (ClinVar ID: VCV000419415). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV004720259	SCV005328347	likely pathogenic	X-linked agammaglobulinemia	2024-09-25	criteria provided, single submitter	clinical testing