ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)

dbSNP: rs764622951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280246 SCV002199253 uncertain significance Aspartylglucosaminuria 2022-08-16 criteria provided, single submitter clinical testing This variant, c.836_838del, results in the deletion of 1 amino acid(s) of the AGA protein (p.Gly279del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764622951, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV002509648 SCV002818734 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001280246 SCV001467409 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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