ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.453+4A>G

dbSNP: rs1569427707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000011845 SCV005088464 likely pathogenic Pelizaeus-Merzbacher disease 2021-12-09 criteria provided, single submitter clinical testing This intronic variant (c.453+4A>G) has not been observed in population databases (gnomAD). It has been described in the literature, and functional studies indicate a deleterious effect on expression of the PLP protein (PMID 16287154, PMID 11071483).
OMIM RCV000011845 SCV000032078 pathogenic Pelizaeus-Merzbacher disease 2000-10-24 no assertion criteria provided literature only

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