ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.920+7G>T (rs2075607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775660 SCV000910054 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000438894 SCV000517971 likely benign not specified 2017-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586623 SCV000696734 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The STK11 c.920+7G>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this substitution along with 5/5 splice prediction tools predicting the variant not to have a significant impact on normal splicing. This variant is absent in 27158 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies A different variant affecting the same position: STK11 c.920+7G>C (19:1222012 G / C) is prevalent in the populations reported by ExAC with allele frequencies ranging between 19%-45% suggesting the c.920+7G position to be variable and the c.920+7G>T variant to fall into the benign spectrum. Additionally, clinical diagnostic laboratory classified this variant as likely benign. Considering all evidence, the variant was classified as a variant of uncertain significance, possibly benign until more information becomes available.
Invitae RCV000123067 SCV000166362 likely benign Peutz-Jeghers syndrome 2017-12-11 criteria provided, single submitter clinical testing

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