ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1249G>T (p.Ala417Ser) (rs587782876)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132509 SCV000187605 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000229071 SCV000284853 uncertain significance Peutz-Jeghers syndrome 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 417 of the STK11 protein (p.Ala417Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. While this variant is not present in population databases (rs587782876), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 142993). 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.
Illumina Clinical Services Laboratory,Illumina RCV000229071 SCV000410749 uncertain significance Peutz-Jeghers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000229071 SCV000784799 uncertain significance Peutz-Jeghers syndrome 2016-12-28 criteria provided, single submitter clinical testing
Color RCV000132509 SCV000911546 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-30 criteria provided, single submitter clinical testing

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