ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.739G>A (p.Ala247Thr)

dbSNP: rs886043504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398751 SCV000340453 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000398751 SCV005201832 likely pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28101371, 10425042)

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