ClinVar Miner

Submissions for variant NM_000451.4(SHOX):c.440G>A (p.Arg147His)

gnomAD frequency: 0.00001  dbSNP: rs886043634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369436 SCV000341211 pathogenic not provided 2016-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000369436 SCV005325967 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Observed in multiple individuals with Leri-Weill dyschondrosteosis or idiopathic short stature in published literature, but familial segregation information and additional clinical information were not included (PMID: 17201812, 23636926, 24296787, 31219618); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17201812, 23729538, 31219618, 30743796, 24296787, 33281875, 23636926)

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