ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.454-314T>A

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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 RCV004595779 SCV005088471 likely pathogenic Pelizaeus-Merzbacher disease 2022-01-24 criteria provided, single submitter clinical testing This intronic variant (c.454-314T>A) has not been observed in population databases (gnomAD). It has been described in the literature (PMID 24890387, PMID 26125040), and functional studies have shown a deleterious effect on protein expression. It has been found in six affected males over two generations in a single family.

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