ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.375_376del (p.Leu126fs)

dbSNP: rs386833425
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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 RCV001036043 SCV001199389 pathogenic Aspartylglucosaminuria 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu126Phefs*18) 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 (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 835213). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001036043 SCV004217660 likely pathogenic Aspartylglucosaminuria 2023-11-10 criteria provided, single submitter clinical testing

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