ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.916C>T (p.His306Tyr)

dbSNP: rs2145428869
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001878747 SCV002134837 pathogenic Peutz-Jeghers syndrome 2023-02-15 criteria provided, single submitter clinical testing This missense change has been observed in individuals with Peutz-Jeghers syndrome (PJS) (PMID: 10874301, 24652667; Invitae). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 1370938). This variant is also known as H272Y. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 306 of the STK11 protein (p.His306Tyr).

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