ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.137T>C (p.Leu46Pro)

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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 RCV004595808 SCV005088511 likely pathogenic Pelizaeus-Merzbacher disease 2021-02-19 criteria provided, single submitter clinical testing This missense variant (c.137T>C, p.Leu46Pro) has not been observed in population databases (gnomAD). It has been described in the literature (PMID 9934976, PMID 15712223). Variant prediction programs suggest a deleterious effect on the PLP1 protein, but no functional studies have been published.

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