ClinVar Miner

Submissions for variant NM_003085.5(SNCB):c.269C>T (p.Pro90Leu)

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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 RCV003881681 SCV004697345 uncertain significance Lewy body dementia criteria provided, single submitter clinical testing The missense variant c.269C>T (p.Pro90Leu) in the SNCB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Proline at position 90 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Pro90Leu in SNCB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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