ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.797dup (p.Leu267fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003598327 SCV004384335 pathogenic Aspartylglucosaminuria 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu267Profs*53) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is present in population databases (rs778172371, gnomAD no frequency).

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