ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.198_201del (p.Arg66fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468432 SCV004214265 likely pathogenic Aspartylglucosaminuria 2023-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468432 SCV004292775 pathogenic Aspartylglucosaminuria 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg66Serfs*7) 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 (rs779157725, gnomAD 0.0009%). 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.

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