ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.200_201del (p.Glu67fs) (rs386833420)

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Total submissions: 5
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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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724147 SCV000227001 pathogenic not provided 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000049348 SCV001208677 pathogenic Aspartylglucosaminuria 2020-04-24 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs386833420, ExAC 0.001%). This variant has been observed in individual(s) with aspartylglucosaminuria (PMID: 7627186). This variant is known in the literature as AGUfin minor. ClinVar contains an entry for this variant (Variation ID: 55939). Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). For these reasons, this variant has been classified as Pathogenic.
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.
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.

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