ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.554_564del (p.Gln185fs)

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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 RCV004588588 SCV005077963 likely pathogenic Pelizaeus-Merzbacher disease criteria provided, single submitter clinical testing This variant (c.554_564del, p.Gln185Leufs*15) predicts a frameshift and a premature termination. It has not been observed in population databases (gnomAD). The change has been described in the literature (PMID 21679497) but no functional studies have been published.

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