ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.90C>T (p.Asp30=) (rs771765869)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164169 SCV000214787 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Color RCV000164169 SCV000691560 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780765 SCV000918282 uncertain significance not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The STK11 c.90C>T (p.Asp30Asp) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/244828 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063). Two clinical diagnostic laboratories classified this variant as likely 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 VUS-possibly benign.
Invitae RCV000472074 SCV000554132 likely benign Peutz-Jeghers syndrome 2016-12-05 criteria provided, single submitter clinical testing

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