ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.447A>G (p.Pro149=)

gnomAD frequency: 0.00001  dbSNP: rs587780718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123061 SCV000166356 likely benign Peutz-Jeghers syndrome 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771625 SCV000904233 likely benign Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000123061 SCV002057793 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771625 SCV002636955 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 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.
All of Us Research Program, National Institutes of Health RCV000123061 SCV005425413 uncertain significance Peutz-Jeghers syndrome 2024-04-10 criteria provided, single submitter clinical testing This synonymous variant does not change the amino acid sequence of the STK11 protein, but it causes an A to G substitution in exon 3 of the STK11 gene. Splice site prediction tools suggest that this variant may create a splice donor site. However, this prediction has not been confirmed in published RNA studies. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/245446 chromosomes 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.

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