ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.742C>T (p.Gln248Ter)

dbSNP: rs386834177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000050172 SCV004510376 pathogenic Imerslund-Grasbeck syndrome 2023-05-01 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: 56759). This premature translational stop signal has been observed in individual(s) with clinical features of Imerslund-GraÃàsbeck Syndrome (PMID: 21750092). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln248*) in the AMN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AMN are known to be pathogenic (PMID: 12590260, 22929189).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050172 SCV000082582 probable-pathogenic Imerslund-Grasbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Inserm U 954, Faculté de Médecine de Nancy RCV000050172 SCV000243930 not provided Imerslund-Grasbeck syndrome no assertion provided not provided
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280865 SCV001468210 pathogenic Imerslund-Grasbeck syndrome type 1 2020-01-21 no assertion criteria provided clinical testing

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