ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.464G>C (p.Gly155Ala)

gnomAD frequency: 0.00022  dbSNP: rs377491933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218264 SCV001390138 uncertain significance 3-methylglutaconic aciduria type 1 2023-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 155 of the AUH protein (p.Gly155Ala). This variant is present in population databases (rs377491933, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with AUH-related conditions. ClinVar contains an entry for this variant (Variation ID: 947236). 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) performed at Invitae indicates that this missense variant is not expected to disrupt AUH 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 RCV002562449 SCV003579760 uncertain significance Inborn genetic diseases 2022-06-15 criteria provided, single submitter clinical testing The c.464G>C (p.G155A) alteration is located in exon 4 (coding exon 4) of the AUH gene. This alteration results from a G to C substitution at nucleotide position 464, causing the glycine (G) at amino acid position 155 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442780 SCV004169494 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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