ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.373_376del (p.Thr125fs)

dbSNP: rs386833425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049353 SCV000788463 pathogenic Aspartylglucosaminuria 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000049353 SCV004292773 pathogenic Aspartylglucosaminuria 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr125Phefs*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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with aspartylglucosaminuria (PMID: 11309371). ClinVar contains an entry for this variant (Variation ID: 55944). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049353 SCV000081785 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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