ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.785A>G (p.Asp262Gly)

gnomAD frequency: 0.00006  dbSNP: rs141025802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732868 SCV000860864 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV002535296 SCV003507330 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 262 of the AMACR protein (p.Asp262Gly). This variant is present in population databases (rs141025802, 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: 596896). 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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