ClinVar Miner

Submissions for variant NM_000481.3(AMT):c.471+2T>C (rs386833684)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049645 SCV000636426 pathogenic Non-ketotic hyperglycinemia 2016-11-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the AMT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in AMT are known to be pathogenic. This particular variant has been reported as compound heterozygous in two individuals affected with nonketotic hyperglycinemia (PMID: 16450403). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049645 SCV000082052 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Counsyl RCV000049645 SCV000797065 pathogenic Non-ketotic hyperglycinemia 2018-01-10 no assertion criteria provided clinical testing

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