ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.319C>T (p.Arg107Ter)

gnomAD frequency: 0.00003  dbSNP: rs765070743
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364848 SCV000345974 pathogenic not provided 2016-09-20 criteria provided, single submitter clinical testing
Invitae RCV000984239 SCV001203669 pathogenic Aspartylglucosaminuria 2023-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg107*) 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 (rs765070743, gnomAD 0.01%). 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: 291257). For these reasons, this variant has been classified as Pathogenic.
MyeliNeuroGene Lab, McGill University Health Center Research Institute RCV000984239 SCV002820975 pathogenic Aspartylglucosaminuria 2022-09-01 criteria provided, single submitter research
Baylor Genetics RCV000984239 SCV004214231 pathogenic Aspartylglucosaminuria 2023-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000984239 SCV001132323 likely pathogenic Aspartylglucosaminuria 2015-08-05 no assertion criteria provided clinical testing

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