ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.836C>G (p.Ala279Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004820693 SCV005441369 likely pathogenic not provided 2024-06-25 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: 29358706, 11793470)

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