ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.768A>C (p.Glu256Asp)

dbSNP: rs1599927585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026710 SCV001189141 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.E256D variant (also known as c.768A>C), located in coding exon 6 of the STK11 gene, results from an A to C substitution at nucleotide position 768. The glutamic acid at codon 256 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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