ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1109G>T (p.Gly370Val)

dbSNP: rs1568716651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258543 SCV002531639 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-11 criteria provided, single submitter curation
Ambry Genetics RCV002258543 SCV005950301 uncertain significance Hereditary cancer-predisposing syndrome 2025-03-03 criteria provided, single submitter clinical testing The p.G370V variant (also known as c.1109G>T) is located in coding exon 9 of the STK11 gene. The glycine at codon 370 is replaced by valine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 9. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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