ClinVar Miner

Submissions for variant NM_002249.6(KCNN3):c.1124T>G (p.Ile375Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV004794765 SCV005414510 uncertain significance Zimmermann-laband syndrome 3 2024-11-18 criteria provided, single submitter clinical testing The variant NM_001204087.1:c.1124T>G, p.Ile375Ser results in the substitution of isoleucine with serine at position 375 in the protein. Isoleucine is a hydrophobic amino acid, while serine is polar, which may impact the protein's structure or function. This change is classified with PP3, indicating computational evidence supporting a potential deleterious effect, PM2, due to the variant's absence or low frequency in the population, and PP2, suggesting the variant may affect a conserved functional domain. Based on these factors, the variant is classified as uncertain significance (VUS), pending further functional or clinical data

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