Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001151193 | SCV001312303 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2017-04-27 | 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 | RCV001151193 | SCV002147142 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 34 of the AMACR protein (p.Val34Leu). This variant is present in population databases (rs377618695, gnomAD 0.009%). 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: 903705). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Prevention |
RCV003963094 | SCV004781223 | uncertain significance | AMACR-related disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | The AMACR c.100G>C variant is predicted to result in the amino acid substitution p.Val34Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0096% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004032792 | SCV004892269 | uncertain significance | Inborn genetic diseases | 2023-12-16 | criteria provided, single submitter | clinical testing | The c.100G>C (p.V34L) alteration is located in exon 1 (coding exon 1) of the AMACR gene. This alteration results from a G to C substitution at nucleotide position 100, causing the valine (V) at amino acid position 34 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |