ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.200_201del (p.Glu67fs)

dbSNP: rs386833420
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049348 SCV000220914 likely pathogenic Aspartylglucosaminuria 2014-11-25 criteria provided, single submitter literature only
Eurofins Ntd Llc (ga) RCV000724147 SCV000227001 pathogenic not provided 2015-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000049348 SCV001208677 pathogenic Aspartylglucosaminuria 2023-04-28 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with aspartylglucosaminuria (PMID: 7627186). ClinVar contains an entry for this variant (Variation ID: 55939). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu67Alafs*3) 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). This variant is present in population databases (rs386833420, gnomAD 0.002%).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000049348 SCV001369986 pathogenic Aspartylglucosaminuria 2019-01-15 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Fulgent Genetics, Fulgent Genetics RCV000049348 SCV002809359 pathogenic Aspartylglucosaminuria 2024-03-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049348 SCV004217593 pathogenic Aspartylglucosaminuria 2024-02-23 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049348 SCV000081780 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV000049348 SCV002084893 pathogenic Aspartylglucosaminuria 2020-08-17 no assertion criteria provided clinical testing

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