ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.268dup (p.Met90fs)

dbSNP: rs2111021475
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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 RCV001878335 SCV002119445 pathogenic Aspartylglucosaminuria 2021-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met90Asnfs*20) 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 (ExAC 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.

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