ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.357C>T (p.Asn119=) (rs372511774)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213010 SCV000211678 benign not specified 2014-01-23 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 RCV000160969 SCV000213678 likely benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590217 SCV000227128 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000195629 SCV000253249 likely benign Peutz-Jeghers syndrome 2017-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000195629 SCV000410735 uncertain significance Peutz-Jeghers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000195629 SCV000488905 likely benign Peutz-Jeghers syndrome 2016-07-18 criteria provided, single submitter clinical testing
Color RCV000160969 SCV000686637 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590217 SCV000696716 benign not provided 2016-09-30 criteria provided, single submitter clinical testing Variant summary: The STK11 c.357C>T (p.Asn119Asn) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on normal splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 10/120328 (1/12032), which is approximately 13 times the estimated maximal expected allele frequency for a pathogenic STK11 variant 1/158730 (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have classified this variant as benign/likely benign. One internal sample carrying this variant also carries another likely pathogenic variant RAD51C c.93delG, further supporting the benign outcome. Taken together, this variant is classified as Benign.

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