ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.113_115del (p.Glu38del)

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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 RCV004595772 SCV005088456 likely pathogenic Pelizaeus-Merzbacher disease 2021-02-16 criteria provided, single submitter clinical testing This variant (c.113_115del, p.Glu38del) is an in-frame, single amino acid deletion that has not been observed in population databases (gnomAD). It has been found in 2 affected males within a single family. It has not been described in the literature, and no functional studies have been published.

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