ClinVar Miner

Submissions for variant NM_013328.4(PYCR2):c.356G>A (p.Arg119His)

dbSNP: rs149587849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492990 SCV000582242 likely pathogenic not provided 2023-05-05 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: 34055512, 25865492, 30125339)
Fulgent Genetics, Fulgent Genetics RCV000763308 SCV000893976 likely pathogenic Hypomyelinating leukodystrophy 10 2018-10-31 criteria provided, single submitter clinical testing

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