ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)

gnomAD frequency: 0.00170  dbSNP: rs62638748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966327 SCV001113635 likely benign Spondyloenchondrodysplasia with immune dysregulation 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962826 SCV004781954 likely benign ACP5-related condition 2020-05-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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