Submissions for variant NM_000455.5(STK11):c.969_971del (p.Pro324del)

dbSNP: rs876660268

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213140	SCV000277554	uncertain significance	Hereditary cancer-predisposing syndrome	2024-05-02	criteria provided, single submitter	clinical testing	The c.969_971delACC variant (also known as p.P324del) is located in coding exon 8 of the STK11 gene. This variant results from an in-frame ACC deletion at nucleotide positions 969 to 971. This results in the in-frame deletion of a proline at codon 324. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV001044009	SCV001207781	uncertain significance	Peutz-Jeghers syndrome	2023-06-11	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This variant, c.969_971del, results in the deletion of 1 amino acid(s) of the STK11 protein (p.Pro324del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with STK11-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 233220).
Genome-Nilou Lab	RCV001044009	SCV002057883	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003462518	SCV004205555	uncertain significance	Melanoma, cutaneous malignant, susceptibility to, 1	2023-09-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477758	SCV004221296	uncertain significance	not provided	2023-08-03	criteria provided, single submitter	clinical testing	This variant causes an in-frame loss of one amino acid in the STK11 protein. This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). However it was observed in one individual in a population of healthy older women (FLOSSIES (https://whi.color.com/)). Based on the available information, we are unable to determine the clinical significance of this variant.
Color Diagnostics, LLC DBA Color Health	RCV000213140	SCV004362412	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-01	criteria provided, single submitter	clinical testing	This variant is a deletion of 3 nucleotides located in exon 8 of the STK11 gene, resulting in an in-frame deletion of one amino acid (proline) in the STK11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.