ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.473G>A (p.Trp158Ter)

gnomAD frequency: 0.00001  dbSNP: rs745976989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409315 SCV000485528 likely pathogenic Aspartylglucosaminuria 2015-12-30 criteria provided, single submitter clinical testing
Invitae RCV000409315 SCV000831375 pathogenic Aspartylglucosaminuria 2023-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp158*) 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 (rs745976989, 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: 370266). For these reasons, this variant has been classified as Pathogenic.

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