Submissions for variant NM_000455.5(STK11):c.291-18_291-17del

gnomAD frequency: 0.00003  dbSNP: rs727503759

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000115598	SCV000149507	uncertain significance	not provided	2018-02-02	criteria provided, single submitter	clinical testing	This variant is denoted STK11 c.291-18_291-17delCT or IVS1-18_IVS1-17delCT and consists of a deletion of two nucleotides at the -17 to -18 position of intron 1 of the STK11 gene. The normal sequence, with the bases that are deleted in brackets, is accc[delct]gtcc. This intronic deletion has not, to our knowledge, been published in the literature as pathogenic or benign. Multiple in silico models predict this variant to weaken the nearby natural splice acceptor site, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. STK11 c.291-18_291-17delCT was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The nucleotides that are deleted are not conserved. Based on currently available information, we consider STK11 c.291-18_291-17delCT to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV000771341	SCV000903621	likely benign	Hereditary cancer-predisposing syndrome	2017-09-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808342	SCV002057233	likely benign	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV001808342	SCV002383163	likely benign	Peutz-Jeghers syndrome	2024-02-01	criteria provided, single submitter	clinical testing