ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.2452G>A (p.Val818Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690942 SCV005184551 uncertain significance not specified 2024-05-28 criteria provided, single submitter clinical testing Variant summary: AGO2 c.2452G>A (p.Val818Met) results in a conservative amino acid change located in the Piwi domain (IPR003165) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250522 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2452G>A in individuals affected with Lessel-Kreienkamp Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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