ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.205C>T (p.Gln69Ter)

dbSNP: rs2147764198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963109 SCV002243293 pathogenic Hereditary spastic paraplegia 2 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln69*) in the PLP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLP1 are known to be pathogenic (PMID: 18470932). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 21679407). ClinVar contains an entry for this variant (Variation ID: 1459546). For these reasons, this variant has been classified as Pathogenic.

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