ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.514-34G>A

dbSNP: rs144077391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000050168 SCV004297174 likely pathogenic Imerslund-Grasbeck syndrome 2024-03-20 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the AMN gene. It does not directly change the encoded amino acid sequence of the AMN protein. This variant is present in population databases (rs144077391, gnomAD 0.003%). This variant has been observed in individual(s) with Imerslund-GraÃàsbeck Syndrome (PMID: 22929189). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56755). Studies have shown that this variant is associated with inconclusive levels of altered splicing (PMID: 22929189). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050168 SCV000082578 probable-pathogenic Imerslund-Grasbeck syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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