ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys)

dbSNP: rs2136937347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004797955 SCV005419553 likely pathogenic not provided 2024-05-22 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: 33417887)
OMIM RCV001837163 SCV002097581 pathogenic Charcot-Marie-Tooth disease, demyelinating, IIA 1I 2022-06-17 no assertion criteria provided literature only

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