ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.481C>T (p.Arg161Trp)

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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 RCV002933573 SCV003269580 uncertain significance Aspartylglucosaminuria 2022-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 161 of the AGA protein (p.Arg161Trp). This variant is present in population databases (rs777637637, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. 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 AGA 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 RCV002933574 SCV003718694 uncertain significance Inborn genetic diseases 2020-12-29 criteria provided, single submitter clinical testing The c.481C>T (p.R161W) alteration is located in exon 4 (coding exon 4) of the AGA gene. This alteration results from a C to T substitution at nucleotide position 481, causing the arginine (R) at amino acid position 161 to be replaced by a tryptophan (W). The p.R161W alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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