ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.757G>A (p.Ala253Thr)

dbSNP: rs1736735409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296393 SCV001485356 uncertain significance Aspartylglucosaminuria 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 253 of the AGA protein (p.Ala253Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC 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 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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