ClinVar Miner

Submissions for variant NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) (rs776731688)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679868 SCV000807239 pathogenic Peroxisome biogenesis disorder 3A 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a deceased 1.5-month-old female with Zellweger syndrome (abnormal VLCFAs), epilepsy, polymicrogyria, Dandy-Walker malformation, heart defect, hydronephrosis, hypothyroidism; family history of infant deaths in multiple sibs and double first cousins
Counsyl RCV000675037 SCV000800467 likely pathogenic Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2018-06-07 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171254 SCV000221451 likely pathogenic not provided no assertion criteria provided research

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