ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)

dbSNP: rs387907050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000023904 SCV001367880 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A 2019-01-11 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
DASA RCV000023904 SCV002526403 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A 2022-06-10 criteria provided, single submitter clinical testing The c.275G>A;p.(Arg92Gln) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 30916; NBK1535; PMID: 21419380) - PS4. This variant is not present in population databases:rs387907050, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Pathogenic missense variant in this residue have been reported and classified as Pathogenic by ACMG criteria (PMID: 21419380 - c.274C>T;p.(Arg92Trp) - PM5. In summary, the currently available evidence indicates that the variant is Likely Pathogenic
OMIM RCV000023904 SCV000045195 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A 2011-04-08 no assertion criteria provided literature only
GeneReviews RCV000023904 SCV000087053 not provided Megalencephalic leukoencephalopathy with subcortical cysts 2A no assertion provided literature only

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