Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591090 | SCV000709658 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
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, |
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. |