ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.51_54del (p.Ser18fs)

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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 RCV004595782 SCV005088475 likely pathogenic Pelizaeus-Merzbacher disease 2021-12-15 criteria provided, single submitter clinical testing This variant (c.51_54del, p.Ser18Trpfs*28) results in a frameshift to a premature termination. It has not been seen in population databases (gnomAD), and no functional studies have been published. It has been found in two affected male siblings and is carried by their mother.

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