ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.595G>T (p.Glu199Ter)

dbSNP: rs370078048
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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 RCV001382137 SCV001580768 pathogenic Aspartylglucosaminuria 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu199*) 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 (rs370078048, gnomAD 0.002%). 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: 1070108). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001382137 SCV004214364 likely pathogenic Aspartylglucosaminuria 2022-02-02 criteria provided, single submitter clinical testing

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