ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.121A>C (p.Thr41Pro)

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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 RCV004595784 SCV005088478 likely pathogenic Pelizaeus-Merzbacher disease 2024-06-14 criteria provided, single submitter clinical testing This missense variant (c.121A>C, p.Thr41Pro) has not been observed in population databases (gnomAD). It has not been described in the literature. Variant prediction programs suggest a deleterious effect on the PLP1 protein, but no functional studies have been published.

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