ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)

dbSNP: rs2512726334
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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 RCV003340984 SCV004047906 uncertain significance Spondyloenchondrodysplasia with immune dysregulation criteria provided, single submitter clinical testing The missense variant in c.584C>G(p.Ala195Gly) in ACP5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala195Gly variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid change p.Ala195Gly in ACP5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ala at position 195 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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