ClinVar Miner

Submissions for variant NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)

dbSNP: rs764339075
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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 RCV001090327 SCV001245813 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV002254332 SCV002525449 likely pathogenic Pontocerebellar hypoplasia, type 1C 2022-03-24 criteria provided, single submitter clinical testing This variant was identified in a patient with a highly specific phenotype for PCH1C together with a second pathogenic variant in trans. The mutation results in a deletin of a single aminoacid Glycine on position 30, in a region without any repeats and in a highly conserved region. According to ACMG criteria we classified this variant as likely pathogenic (PM2, PP3, PM4, PM3).

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