ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1044C>T (p.Asp348=) (rs778274196)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165486 SCV000216217 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 criteria provided, single submitter clinical testing
Color RCV000165486 SCV000686580 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000421041 SCV000518138 likely benign not specified 2016-03-02 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 RCV000421041 SCV000920270 uncertain significance not specified 2018-11-30 criteria provided, single submitter clinical testing Variant summary: STK11 c.1044C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.1e-05 in 242088 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1044C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000200651 SCV000253243 likely benign Peutz-Jeghers syndrome 2017-12-18 criteria provided, single submitter clinical testing

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