ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)

dbSNP: rs1569427243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680073 SCV000807513 uncertain significance Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 1-year-old male with hypotonia, developmental delay, seizures, mild dysmorphisms. Another missense variant affecting the same codon has been previously reported in PMD.

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