ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.303C>A (p.Cys101Ter)

dbSNP: rs121909371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002276541 SCV002567546 pathogenic not provided 2022-02-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.C83X (c.346C>A) using alternative nomenclature; This variant is associated with the following publications: (PMID: 25525159, 28498917, 19169479, 29748515, 17405847, 21525302, 15536163)
OMIM RCV000009191 SCV000029408 pathogenic Laron-type isolated somatotropin defect 2005-01-01 no assertion criteria provided literature only

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