ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)

gnomAD frequency: 0.00159  dbSNP: rs6804746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900992 SCV001045338 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334557 SCV001527432 uncertain significance Aminoacylase 1 deficiency 2018-09-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000900992 SCV001714108 uncertain significance not provided 2019-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757314 SCV004758344 likely benign ACY1-related disorder 2024-08-02 no assertion criteria provided 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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