ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.574A>G (p.Ile192Val)

gnomAD frequency: 0.00001  dbSNP: rs189159117
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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 RCV001962382 SCV002210576 uncertain significance Aspartylglucosaminuria 2022-08-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1434186). This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is present in population databases (rs189159117, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 192 of the AGA protein (p.Ile192Val).

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