ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.625G>C (p.Gly209Arg)

gnomAD frequency: 0.00002  dbSNP: rs377130820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730965 SCV000858735 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001306056 SCV001495412 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2023-07-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 595424). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. This variant is present in population databases (rs377130820, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 209 of the AMACR protein (p.Gly209Arg). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AMACR 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.
Ambry Genetics RCV002535183 SCV003690735 uncertain significance Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing The c.625G>C (p.G209R) alteration is located in exon 4 (coding exon 4) of the AMACR gene. This alteration results from a G to C substitution at nucleotide position 625, causing the glycine (G) at amino acid position 209 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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