ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.862C>T (p.Gln288Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003863217 SCV004664911 pathogenic Imerslund-Grasbeck syndrome 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln288*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AMN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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