ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)

dbSNP: rs2074490307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196160 SCV001366681 pathogenic Pelizaeus-Merzbacher disease 2019-04-04 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PS1,PS3,PP3. This variant was detected in hemizygous state.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV001196160 SCV005077957 likely pathogenic Pelizaeus-Merzbacher disease criteria provided, single submitter clinical testing This missense variant (c.173A>G, p.Tyr58Cys) has not been reported in population databases (gnomAD) and has not been described in the literature. Variant prediction programs suggest a deleterious effect but no functional studies have been published.

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