ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)

dbSNP: rs61748427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991000 SCV001142088 likely pathogenic Rett syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV003128734 SCV003806097 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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