Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV001420555 | SCV001622861 | uncertain significance | EAST syndrome | 2020-07-28 | criteria provided, single submitter | clinical testing | The homozygous c.536T>A (p.Ile179Asn) missense variant identified in the KCNJ10 gene has not been reported in the literature. The p.Ile179Asn variant is absent from gnomAD (v3.0), suggesting it is not a common benign variant. In silico algorithms predict this variant to be deleterious to the function of the canonical transcript [PMID: 27268795]. Based on the available evidence, the c.536T>A (p.Ile179Asn) missense variant identified in the KCNJ10 gene is classified as a Variant of Uncertain Significance. |