ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)

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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 RCV002756325 SCV003027421 pathogenic Aspartylglucosaminuria 2022-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu126*) 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 variant has not been reported in the literature in individuals affected with AGA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002756325 SCV004214276 likely pathogenic Aspartylglucosaminuria 2024-03-23 criteria provided, single submitter clinical testing

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