ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.15C>T (p.Asp5=)

gnomAD frequency: 0.00001  dbSNP: rs786201498
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163753 SCV000214330 likely benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538130 SCV000629094 likely benign Peutz-Jeghers syndrome 2024-11-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163753 SCV000691488 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590092 SCV000696713 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163753 SCV002531674 likely benign Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998313 SCV005624858 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing The STK11 c.15C>T (p.Asp5=) synonymous variant has not been reported in individuals with STK11-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect STK11 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000538130 SCV005915887 uncertain significance Peutz-Jeghers syndrome 2021-11-26 criteria provided, single submitter clinical testing

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