ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1250C>A (p.Ala417Asp)

dbSNP: rs1166243253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003618487 SCV004488650 uncertain significance Peutz-Jeghers syndrome 2022-12-26 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 417 of the STK11 protein (p.Ala417Asp).
Ambry Genetics RCV004950528 SCV005515504 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-14 criteria provided, single submitter clinical testing The c.1250C>A (p.A417D) alteration is located in exon 9 (coding exon 9) of the STK11 gene. This alteration results from a C to A substitution at nucleotide position 1250, causing the alanine (A) at amino acid position 417 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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