ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.412del (p.Val138fs)

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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 RCV004595771 SCV005088454 likely pathogenic Pelizaeus-Merzbacher disease 2021-11-24 criteria provided, single submitter clinical testing This variant (c.412delG, p.Val138Cysfs*9) results in a frameshift to a premature termination. It has not been observed in population databases (gnomAD), but it has been described in the literature (PMID 11093273). No functional studies have been published.

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