ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)

dbSNP: rs2512718423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002852529 SCV003228331 uncertain significance Spondyloenchondrodysplasia with immune dysregulation 2022-08-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with ACP5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the ACP5 mRNA. It is expected to extend the length of the ACP5 protein by 8 additional amino acid residues.

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