ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.972A>C (p.Glu324Asp)

dbSNP: rs2145697297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029539 SCV002304123 uncertain significance Combined immunodeficiency due to STK4 deficiency 2022-08-16 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 STK4 protein function. ClinVar contains an entry for this variant (Variation ID: 1514768). This variant has not been reported in the literature in individuals affected with STK4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 324 of the STK4 protein (p.Glu324Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

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