ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) (rs1569427311)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680072 SCV000807512 pathogenic Pelizaeus-Merzbacher disease 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 de novo in a 4-year-old male with global delays, central hypotonia, peripheral spasticity, dysmorphisms, nystagmus, strabisumus, intention tremor

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