ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.512G>A (p.Arg171His)

gnomAD frequency: 0.00001  dbSNP: rs770694101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890280 SCV002149673 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1382430). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with AMACR-related conditions. This variant is present in population databases (rs770694101, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 171 of the AMACR protein (p.Arg171His).
Ambry Genetics RCV004641736 SCV005129996 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.512G>A (p.R171H) alteration is located in exon 3 (coding exon 3) of the AMACR gene. This alteration results from a G to A substitution at nucleotide position 512, causing the arginine (R) at amino acid position 171 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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