ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.55del (p.Ala19fs)

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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 RCV003029374 SCV003323911 pathogenic Aspartylglucosaminuria 2022-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is present in population databases (rs754336186, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ala19Profs*2) in the AGA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371).
3billion RCV003029374 SCV003841712 pathogenic Aspartylglucosaminuria 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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