ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1225C>A (p.Arg409=)

dbSNP: rs368466538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293500 SCV001482086 benign not specified 2021-02-12 criteria provided, single submitter clinical testing Variant summary: STK11 c.1225C>A alters a conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 194938 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. Co-occurrence with a pathogenic variant has been reported (BARD1 c.448C>T, p.Arg150Ter), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV001450345 SCV001653950 likely benign Peutz-Jeghers syndrome 2021-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001450345 SCV002057700 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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