ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.709T>G (p.Phe237Val) (rs1602385663)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine RCV001007563 SCV001160664 likely pathogenic Pelizaeus-Merzbacher disease 2020-02-10 criteria provided, single submitter clinical testing The variant is absent in gnomAD and identified as de novo in a Pelizaeus-Merzbacher disease (PMD) patient in our laboratory. It has been reported twice in Chinese patients with PMD and reported as de novo (unknown paternity confirmation) (PMID:25491635,29451896). Phenotype of the patients consistent with gene but not highly specific. Functional analysis in cell lines suggested potential effect of this variant on protein localization (PMID: 25491635). Alternative variant p.Phe237Ser has been reported (PMID:8956049). Multiple lines of computational evidence support a deleterious effect on the gene /gene product (REVEL = 0.878).

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