Submissions for variant NM_006618.5(KDM5B):c.1822-3C>T

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003236561	SCV003933847	uncertain significance	not specified	2023-05-04	criteria provided, single submitter	clinical testing	Variant summary: JARID1B c.1822-3C>T alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00054 in 272248 control chromosomes, predominantly at a frequency of 0.0044 within the South Asian subpopulation in the gnomAD database, including 1 homozygote (gnomAD v2.1). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1822-3C>T in individuals affected with Intellectual Disability, Autosomal Recessive 65 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen	RCV003420628	SCV004124303	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KDM5B: BP4