ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.86del (p.Leu29fs)

gnomAD frequency: 0.00001  dbSNP: rs764598121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668122 SCV000792673 likely pathogenic Aspartylglucosaminuria 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000668122 SCV004671238 pathogenic Aspartylglucosaminuria 2023-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552792). This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is present in population databases (rs764598121, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu29Argfs*19) 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).

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