ClinVar Miner

Submissions for variant NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)

gnomAD frequency: 0.00001  dbSNP: rs397509387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000043572 SCV000597293 likely pathogenic Microcephaly-capillary malformation syndrome 2017-04-19 criteria provided, single submitter clinical testing
GeneDx RCV004719680 SCV005325161 likely pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing 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: 21815250, 23542699)
OMIM RCV000043572 SCV000071442 pathogenic Microcephaly-capillary malformation syndrome 2013-05-01 no assertion criteria provided literature only

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