Submissions for variant NM_001347721.2(DYRK1A):c.301-8C>T

gnomAD frequency: 0.00001  dbSNP: rs991072716

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001452499	SCV001656166	likely benign	DYRK1A-related intellectual disability syndrome	2023-03-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317499	SCV004020838	uncertain significance	not specified	2023-06-05	criteria provided, single submitter	clinical testing	Variant summary: DYRK1A c.328-8C>T alters a 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 was absent in 217116 control chromosomes. 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.328-8C>T in individuals affected with Mental Retardation, Autosomal Dominant 7 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.