ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.333del (p.Ile112fs)

dbSNP: rs1057517223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410049 SCV000486937 likely pathogenic Aspartylglucosaminuria 2016-09-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410049 SCV004214320 likely pathogenic Aspartylglucosaminuria 2024-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410049 SCV004620747 pathogenic Aspartylglucosaminuria 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile112Leufs*16) 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 0.0009%). 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: 371375). For these reasons, this variant has been classified as Pathogenic.

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