ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.380_392del (p.Arg127fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004588586 SCV005077958 pathogenic Pelizaeus-Merzbacher disease criteria provided, single submitter clinical testing This variant (c.380_392del, p.Arg127Lys*16) results in a frameshift to a premature termination. It has not been observed in population databases (gnomAD). The change has been reported in the literature (PMID 26125040) but no functional studies have been published. It has been observed in two affected male siblings and is carried by their mother.

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