ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.644del (p.Phe215fs)

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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 RCV004595790 SCV005088485 likely pathogenic Pelizaeus-Merzbacher disease 2021-12-22 criteria provided, single submitter clinical testing This variant (c.644delT, p.Phe215Serfs*21) results in a frameshift to a premature termination. It has not been seen in population databases (gnomAD) nor reported in the literature, and no functional studies have been published.

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