ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.329del (p.Asn110fs)

dbSNP: rs764357395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265847 SCV001444019 pathogenic Inborn genetic diseases 2018-02-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469496 SCV004214331 likely pathogenic Aspartylglucosaminuria 2022-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003469496 SCV004272838 pathogenic Aspartylglucosaminuria 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn110Metfs*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 (rs764357395, gnomAD 0.0009%). 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: 985108). For these reasons, this variant has been classified as Pathogenic.

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