ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.854C>T (p.Ala285Val)

gnomAD frequency: 0.00003  dbSNP: rs763018918
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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 RCV001233217 SCV001405800 uncertain significance Aspartylglucosaminuria 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 285 of the AGA protein (p.Ala285Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs763018918, ExAC 0.009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001233217 SCV002084883 uncertain significance Aspartylglucosaminuria 2020-08-15 no assertion criteria provided clinical testing

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