ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1296G>A (p.Gln432=) (rs587781179)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213036 SCV000171897 benign not specified 2014-05-09 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 RCV000128305 SCV000212873 likely benign Hereditary cancer-predisposing syndrome 2014-07-30 criteria provided, single submitter clinical testing
Invitae RCV000588407 SCV000253248 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Color RCV000128305 SCV000686620 likely benign Hereditary cancer-predisposing syndrome 2015-12-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588407 SCV000696712 benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The c.1296G>A (p.Gln432=) in STK11 affects a non-conserved nucleotide and 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, no functional studies confirming these predictions were published at the time of evaluation. This variant is found in 1/11504 control chromosomes of ExAC at a frequency of 0.000086 and 28/157510 chrs tested in gnomAD dataset. These frequencies exceed the maximal expected frequency of a pathogenic allele (0.0000056), suggesting this variant is benign. In addition, multiple clinical laboratories classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant was classified as benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588407 SCV000889853 benign not provided 2018-01-03 criteria provided, single submitter clinical testing

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