ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448797 SCV004176531 uncertain significance Hereditary spastic paraplegia 31 2023-02-14 criteria provided, single submitter clinical testing The missense c.715G>A (p.Glu239Lys) variant in REEP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu239Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Glu239Lys in REEP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 239 is changed to a Lys, changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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