ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.536T>A (p.Ile179Asn)

dbSNP: rs2101924903
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Total submissions: 1
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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.

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