ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.172G>A (p.Asp58Asn)

gnomAD frequency: 0.00001  dbSNP: rs774651961
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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 RCV001222536 SCV001394636 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 58 of the AGXT protein (p.Asp58Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs774651961, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with AGXT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001833929 SCV002076455 uncertain significance Primary hyperoxaluria, type I 2020-08-05 no assertion criteria provided clinical testing

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