ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.290T>A (p.Leu97Gln)

gnomAD frequency: 0.00001  dbSNP: rs1401791648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646756 SCV000768541 uncertain significance EAST syndrome 2022-01-13 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 537735). This variant has not been reported in the literature in individuals affected with KCNJ10-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 97 of the KCNJ10 protein (p.Leu97Gln).

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