ClinVar Miner

Submissions for variant NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs)

dbSNP: rs2142575218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow RCV001507096 SCV001663002 likely pathogenic Cushing syndrome due to macronodular adrenal hyperplasia 2021-06-04 criteria provided, single submitter clinical testing Null variant (frame-shift), in gene ARMC5, for which loss-of-function is a known mechanism of disease (gene has 8 pathogenic LOF variants and gnomAD Loss-of-Function Observed/Expected = 0.262 is less than 0.763), associated with ACTH-independent macronodular adrenal hyperplasia 2. Variant not found in gnomAD exomes (good gnomAD exomes coverage = 63.1). Variant not found in gnomAD genomes (good gnomAD genomes coverage = 31.0). Pathogenic computational verdict based on 1 pathogenic prediction from phyloP vs no benign predictions.

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