ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.1030G>C (p.Asp344His)

gnomAD frequency: 0.00001  dbSNP: rs776865078
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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 RCV000703347 SCV000832244 uncertain significance Aspartylglucosaminuria 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 344 of the AGA protein (p.Asp344His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs776865078, ExAC 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. RCV000703347 SCV002084877 uncertain significance Aspartylglucosaminuria 2019-10-28 no assertion criteria provided clinical testing

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