ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.671_920+333del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056972 SCV001221439 pathogenic Peutz-Jeghers syndrome 2019-02-01 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 6-7 and part of exon 5 (c.670_920+332) of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with STK11-related conditions. This variant disrupts the p.Arg297 amino acid residue in STK11. Other variant(s) that disrupt this residue have been observed in individuals with STK11-related conditions (PMID:10408777, 24652667, 26607058, 28185117), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.

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