ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1258G>T (p.Ala420Ser) (rs762482152)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223101 SCV000276812 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000663120 SCV000786249 uncertain significance Peutz-Jeghers syndrome 2018-03-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760075 SCV000889849 uncertain significance not provided 2018-07-14 criteria provided, single submitter clinical testing
Invitae RCV000663120 SCV000951467 uncertain significance Peutz-Jeghers syndrome 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 420 of the STK11 protein (p.Ala420Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with colorectal cancer (PMID: 28944238). ClinVar contains an entry for this variant (Variation ID: 232630). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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