ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)

dbSNP: rs132630292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801130 SCV000940894 pathogenic Hereditary spastic paraplegia 2 2018-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in twin siblings affected with PLP1-related disease (PMID: 7488049). This variant has also been observed to segregate with PLP1-related disease in a family (PMID: 9056547). This variant is also known as p.Trp144* in the literature. ClinVar contains an entry for this variant (Variation ID: 11090). Loss-of-function variants in PLP1 are known to be pathogenic (PMID: 18470932). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp145*) in the PLP1 gene. It is expected to result in an absent or disrupted protein product.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004595484 SCV005088458 likely pathogenic Pelizaeus-Merzbacher disease 2021-11-29 criteria provided, single submitter clinical testing This nonsense variant (c.434G>A, p.Trp145*) has not been observed in population databases (gnomAD). It has been described in the literature, and found in twin affected males (PMID 7488049, PMID 9056547). No functional studies have been published.
OMIM RCV000011839 SCV000032072 pathogenic Pelizaeus-Merzbacher disease, atypical 1997-03-17 no assertion criteria provided literature only

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