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

dbSNP: rs386834177

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000050172	SCV004510376	pathogenic	Imerslund-Grasbeck syndrome	2023-05-01	criteria provided, single submitter	clinical testing	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). This premature translational stop signal has been observed in individual(s) with clinical features of Imerslund-GraÃàsbeck Syndrome (PMID: 21750092). ClinVar contains an entry for this variant (Variation ID: 56759). For these reasons, this variant has been classified as Pathogenic.
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