ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.377C>T (p.Ser126Phe)

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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 RCV004595768 SCV005088447 uncertain significance Pelizaeus-Merzbacher disease 2021-11-17 criteria provided, single submitter clinical testing This missense variant (c.377C>T, p.Ser126Phe) has not been observed in population databases (gnomAD). It has not been described in the literature. Results from variant prediction programs show no consensus regarding its effect on the PLP1 protein, and no functional studies have been published. There is insufficient evidence available to provide a classification other than uncertain significance for this variant.

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