ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)

gnomAD frequency: 0.00026  dbSNP: rs765322702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732293 SCV000860226 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV001855770 SCV002115238 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 61 of the AMACR protein (p.Arg61Pro). This variant is present in population databases (rs765322702, gnomAD 0.08%). 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: 596449). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Fulgent Genetics, Fulgent Genetics RCV002485912 SCV002779999 uncertain significance Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency 2021-07-27 criteria provided, single submitter clinical testing

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