ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.762+1G>A

dbSNP: rs2147768084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823436 SCV002072870 uncertain significance Pelizaeus-Merzbacher disease criteria provided, single submitter clinical testing The splice donor variant c.762+1G>A in PLP1 (NM_000533.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.762+1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.This variant is present in the penultimate intron and hence is expected to affect less that 10% of the protein. Functional studies will be required to prove it's effect.For these reasons, this variant has been classified as Uncertain Significance.

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