ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.554T>C (p.Val185Ala) (rs145786819)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224246 SCV000281027 likely benign not provided 2016-01-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224246 SCV000708653 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV000706283 SCV000835323 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 185 of the AMACR protein (p.Val185Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs145786819, ExAC 0.1%). This variant has not been reported in the literature in individuals with AMACR-related disease. ClinVar contains an entry for this variant (Variation ID: 235439). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224246 SCV001154382 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000706283 SCV001318166 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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