ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.2065G>A (p.Glu689Lys)

gnomAD frequency: 0.00001  dbSNP: rs747045738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487862 SCV000575607 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000487862 SCV004170607 likely pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34258140, 24566669)

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