ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.436C>T (p.Leu146=)

dbSNP: rs2147764616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848568 SCV002105479 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004595631 SCV005088459 likely pathogenic Pelizaeus-Merzbacher disease 2024-04-25 criteria provided, single submitter clinical testing This variant (c.436C>T, p.Leu146=) predicts a synoymous change that has not been observed in population databases (gnomAD). It has been described in the literature, and functional studies indicate an effect on protein expression (PMID 26125040, PMID 30195779).

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