ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.311A>T (p.Asp104Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118032 SCV003784174 uncertain significance Aspartylglucosaminuria 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 104 of the AGA protein (p.Asp104Val). This variant is not present in population databases (gnomAD no frequency). 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.

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