ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.900C>T (p.Ile300=) (rs546089394)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213025 SCV000211689 benign not specified 2014-02-07 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.
Ambry Genetics RCV000160979 SCV000213604 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV000586525 SCV000284880 likely benign not provided 2019-01-19 criteria provided, single submitter clinical testing
Color RCV000160979 SCV000691558 likely benign Hereditary cancer-predisposing syndrome 2017-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586525 SCV000696731 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The STK11 c.900C>T (p.Ile300Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/22932 control chromosomes at a frequency of 0.0001308, which is approximately 21 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586525 SCV001134852 benign not provided 2019-06-07 criteria provided, single submitter clinical testing

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