ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.834A>G (p.Ter278Trp)

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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 RCV004595805 SCV005088507 likely pathogenic Pelizaeus-Merzbacher disease 2022-02-25 criteria provided, single submitter clinical testing This variant (c.834A>T, p.*278Trpext*14) occurs at the last nucleotide of coding exon 7, and has not been observed in population databases (gnomAD). It has been described in the literature (PMID24139698, PMID 25156430). No functional studies have not been reported. It has been found in 4 affected males across 2 generations in a single family.

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