ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.445C>A (p.Leu149Ile)

gnomAD frequency: 0.00001  dbSNP: rs1057520170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000442238 SCV000511565 uncertain significance not provided 2016-08-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000442238 SCV001448855 uncertain significance not provided 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV002524732 SCV002998160 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-06-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 149 of the AMACR protein (p.Leu149Ile). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. ClinVar contains an entry for this variant (Variation ID: 377239). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000442238 SCV004227067 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing BP4, PM2

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