ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)

dbSNP: rs11543022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851798 SCV002132228 pathogenic Hereditary spastic paraplegia 2 2021-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 11075). This variant is also known as C>T transition at nucleotide 40. This missense change has been observed in individuals with Pelizaeus-Merzbacher disease (PMID: 2480601, 24139698). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the PLP1 protein (p.Pro15Leu).
OMIM RCV000011824 SCV000032057 pathogenic Pelizaeus-Merzbacher disease 1989-12-01 no assertion criteria provided literature only

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