ClinVar Miner

Submissions for variant NC_000014.8:g.(?_103389228)_(103394842_?)del

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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 RCV004578090 SCV005065558 pathogenic Imerslund-Grasbeck syndrome 2024-01-26 criteria provided, single submitter clinical testing This variant results in the deletion of exons 2-3 and part of exon 4 (c.43+160_287del) of the AMN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AMN are known to be pathogenic (PMID: 12590260, 22929189). This variant has not been reported in the literature in individuals affected with AMN-related conditions. This variant disrupts a region of the AMN protein in which other variant(s) (p.Thr41Ile) have been determined to be pathogenic (PMID: 12590260, 22929189, 30523278). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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