ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.110A>C (p.His37Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437310 SCV002744773 uncertain significance Inborn genetic diseases 2018-01-23 criteria provided, single submitter clinical testing The p.H37P variant (also known as c.110A>C), located in coding exon 2 of the PLP1 gene, results from an A to C substitution at nucleotide position 110. The histidine at codon 37 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004595664 SCV005088445 likely pathogenic Pelizaeus-Merzbacher disease 2024-06-14 criteria provided, single submitter clinical testing This missense variant (c.110T>C, p.His37Pro) 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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