ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)

dbSNP: rs769522583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721581 SCV005328005 pathogenic not provided 2023-12-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a loss-of-function effect (PMID: 33973697); 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: 35131284, 34089226, 33258288, 33973697, 36553517, 30377382, 35032046)
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754786 SCV000882668 likely pathogenic Chromosome 1p32-p31 deletion syndrome 2018-09-13 no assertion criteria provided clinical testing

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