ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.635C>G (p.Thr212Ser)

dbSNP: rs1555738389
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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 RCV001025172 SCV001187310 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing The p.T212S variant (also known as c.635C>G), located in coding exon 5 of the STK11 gene, results from a C to G substitution at nucleotide position 635. The threonine at codon 212 is replaced by serine, an amino acid with similar properties. Two individuals with renal cell carcinoma were reported to have STK11 p.T212S (called LKB1 p.T212S) (Yalniz Z et al. Tumour Biol., 2014 Dec;35:12361-8). 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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