ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.770A>G (p.Asn257Ser)

gnomAD frequency: 0.00004  dbSNP: rs781463041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732738 SCV000860722 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000732738 SCV001714139 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003106044 SCV003780017 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 257 of the AMACR protein (p.Asn257Ser). This variant is present in population databases (rs781463041, gnomAD 0.01%). 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: 596793). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV004748944 SCV005361971 uncertain significance AMACR-related disorder 2024-08-23 no assertion criteria provided clinical testing The AMACR c.770A>G variant is predicted to result in the amino acid substitution p.Asn257Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0097% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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