ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)

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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 RCV003389366 SCV004101461 uncertain significance Niemann-Pick disease, type A criteria provided, single submitter clinical testing The c.338G>T (p.Arg113Leu) missense variant in SMPD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg113Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 113 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg113Leu in SMPD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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