ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1262G>A (p.Ser421Asn)

gnomAD frequency: 0.00001  dbSNP: rs1253803683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010636 SCV001170864 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-27 criteria provided, single submitter clinical testing The p.S421N variant (also known as c.1262G>A), located in coding exon 9 of the STK11 gene, results from a G to A substitution at nucleotide position 1262. The serine at codon 421 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461318 SCV004205586 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2023-06-16 criteria provided, single submitter clinical testing

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