ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.428A>G (p.Asn143Ser)

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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 RCV002611656 SCV003504775 uncertain significance Aspartylglucosaminuria 2022-08-05 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 143 of the AGA protein (p.Asn143Ser). This variant is present in population databases (rs144349742, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. 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. 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 RCV002623544 SCV003731063 uncertain significance Inborn genetic diseases 2021-04-03 criteria provided, single submitter clinical testing The c.428A>G (p.N143S) alteration is located in exon 4 (coding exon 4) of the AGA gene. This alteration results from a A to G substitution at nucleotide position 428, causing the asparagine (N) at amino acid position 143 to be replaced by a serine (S). The p.N143S 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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