ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.388C>T (p.His130Tyr)

dbSNP: rs878853076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000223963 SCV000281300 likely pathogenic not provided 2014-11-13 criteria provided, single submitter clinical testing
Invitae RCV001854777 SCV002187497 uncertain significance Hereditary spastic paraplegia 2 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 130 of the PLP1 protein (p.His130Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary spastic paraplegia (PMID: 11093273, 34782662). This variant is also known as H129Y. ClinVar contains an entry for this variant (Variation ID: 235599). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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