ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.783G>A (p.Met261Ile)

gnomAD frequency: 0.00022  dbSNP: rs9282593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591090 SCV000709658 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765839 SCV000897234 uncertain significance Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154993 SCV001316391 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001154993 SCV002219074 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 261 of the AMACR protein (p.Met261Ile). This variant is present in population databases (rs9282593, 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: 502794). 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 isoleucine 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.

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