ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1075G>A (p.Asp359Asn)

dbSNP: rs1060499967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471819 SCV000541156 uncertain significance Peutz-Jeghers syndrome 2016-05-26 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an STK11-related disease. This sequence change replaces aspartic acid with asparagine at codon 359 of the STK11 protein (p.Asp359Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003392262 SCV004112103 uncertain significance STK11-related disorder 2023-05-09 criteria provided, single submitter clinical testing The STK11 c.1075G>A variant is predicted to result in the amino acid substitution p.Asp359Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been classified as uncertain in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/403789/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV004567935 SCV005052865 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2024-03-22 criteria provided, single submitter clinical testing

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