Submissions for variant NM_016653.3(MAP3K20):c.744+9A>G

gnomAD frequency: 0.00181  dbSNP: rs148211031

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002115613	SCV002400454	benign	not provided	2023-12-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235675	SCV003933951	uncertain significance	not specified	2023-05-31	criteria provided, single submitter	clinical testing	Variant summary: MAP3K20 c.744+9A>G alters a non-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 282144 control chromosomes (gnomAD). To our knowledge, no occurrence of c.744+9A>G in individuals affected with MAP3K20-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified it as benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.