ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1294C>T (p.Gln432Ter) (rs1057523149)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418374 SCV000530884 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing The Q432X variant in the STK11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q432X variant was not observed in approximately 5,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, though the average coverage at this position was low (<10X). We interpret Q432X as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509245 SCV000607011 not provided Peutz-Jeghers syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000509245 SCV000963327 uncertain significance Peutz-Jeghers syndrome 2018-12-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STK11 gene (p.Gln432*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the STK11 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 388557). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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