Submissions for variant NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)

dbSNP: rs1060499969

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472798	SCV000541162	uncertain significance	Peutz-Jeghers syndrome	2024-01-27	criteria provided, single submitter	clinical testing	This variant, c.1037_1042del, results in the deletion of 2 amino acid(s) of the STK11 protein (p.Gly346_Ala347del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 403793). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Color Diagnostics, LLC DBA Color Health	RCV000579444	SCV000686578	uncertain significance	Hereditary cancer-predisposing syndrome	2019-04-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000579444	SCV001178123	uncertain significance	Hereditary cancer-predisposing syndrome	2023-09-27	criteria provided, single submitter	clinical testing	The c.1037_1042delGCGCGG variant (also known as p.G346_A347del) is located in coding exon 8 of the STK11 gene. This variant results from an in-frame GCGCGG deletion at nucleotide positions 1037 to 1042. This results in the in-frame deletion of a glycine and an alanine residue at codons 346 to 347. This variant was identified in a cohort of 882 Chinese individuals with a personal and/or family history of breast or ovarian cancers who underwent multi-gene panel testing for HBOC risk assessment (Shao D et al. Cancer Sci, 2020 Feb;111:647-657). This amino acid region is not 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800673	SCV002046274	uncertain significance	not specified	2020-10-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000472798	SCV002057904	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV004567936	SCV005052868	uncertain significance	Melanoma, cutaneous malignant, susceptibility to, 1	2024-03-19	criteria provided, single submitter	clinical testing