ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.106C>T (p.Arg36Trp)

gnomAD frequency: 0.00001  dbSNP: rs769044213
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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 RCV002045106 SCV002296284 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-03-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AMACR-related conditions. This variant is present in population databases (rs769044213, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 36 of the AMACR protein (p.Arg36Trp). 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. 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.
Ambry Genetics RCV004641877 SCV005130038 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.106C>T (p.R36W) alteration is located in exon 1 (coding exon 1) of the AMACR gene. This alteration results from a C to T substitution at nucleotide position 106, causing the arginine (R) at amino acid position 36 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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