ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.359del (p.Gly120fs)

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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 RCV004595767 SCV005088446 likely pathogenic Pelizaeus-Merzbacher disease 2021-11-16 criteria provided, single submitter clinical testing This variant (c.359delG, p.Gly120Alafs*27) occurs in a homopolymer region and results in a frameshift to a premature termination. It has not been observed in population databases (gnomAD), nor is it described in the literature. No functional studies have been published.

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