ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.390G>C (p.Glu130Asp)

gnomAD frequency: 0.00001  dbSNP: rs770240412
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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 RCV001230536 SCV001403018 uncertain significance Aspartylglucosaminuria 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 130 of the AGA protein (p.Glu130Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs770240412, ExAC 0.001%). 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 aspartic acid 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.
Natera, Inc. RCV001230536 SCV002084888 uncertain significance Aspartylglucosaminuria 2020-08-10 no assertion criteria provided clinical testing

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