ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.908T>G (p.Ile303Ser)

dbSNP: rs727504171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153993 SCV000203618 likely pathogenic not provided 2014-04-09 criteria provided, single submitter clinical testing
Invitae RCV002514964 SCV003241220 uncertain significance Peutz-Jeghers syndrome 2022-10-05 criteria provided, single submitter clinical testing 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: 167721). This missense change has been observed in individual(s) with hamartomatous polyps (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 303 of the STK11 protein (p.Ile303Ser). This variant disrupts the p.Ile303 amino acid residue in STK11. Other variant(s) that disrupt this residue have been observed in individuals with STK11-related conditions (PMID: 24949325), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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