ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.453+2T>C (rs1556267388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598719 SCV000709927 pathogenic not provided 2018-08-31 criteria provided, single submitter clinical testing The c.453+2 T>C pathogenic variant in the PLP1 gene has been previously reported in a male with classic Pelizaeus-Merzbacher disease (Hobson et al., 2000). Published functional studies demonstrate that c.453+2 T>C resulted in absent PLP1 protein. (Hobson et al., 2006). This pathogenic variant destroys the canonical splice donor site of intron 3 and is expected to cause abnormal gene splicing. This variant is not observed in large population cohorts (Lek et al.2016). Therefore, this variant is interpreted as pathogenic.
OMIM RCV000011844 SCV000032077 pathogenic Pelizaeus-Merzbacher disease 2000-10-24 no assertion criteria provided literature only

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