ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1062_1073del (p.Glu357_Ile360del)

dbSNP: rs1599929523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811854 SCV000952143 uncertain significance Peutz-Jeghers syndrome 2020-02-14 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids 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. This variant has not been reported in the literature in individuals with STK11-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1062_1073delCGACATCGAGGA, results in the deletion of 4 amino acids of the STK11 protein (p.Glu357_Ile360del), but otherwise preserves the integrity of the reading frame.

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