ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.514A>G (p.Thr172Ala)

gnomAD frequency: 0.00004  dbSNP: rs773084615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001866654 SCV002117679 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 172 of the AMACR protein (p.Thr172Ala). This variant is present in population databases (rs773084615, gnomAD 0.03%). 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: 1354911). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AMACR protein function. 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.

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