ClinVar Miner

Submissions for variant NM_001164710.2(AMT):c.340-442_340-428del (rs386833683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049644 SCV000959339 pathogenic Non-ketotic hyperglycinemia 2018-10-10 criteria provided, single submitter clinical testing This variant, c.452_466delAAGATTTGGCCCTCA, results in the deletion of 5 amino acid(s) of the AMT protein (p.Lys151_Leu155del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs386833683, gnomAD 0.006%). This variant has been observed to be homozygous in several unrelated individuals affected with glycine encephalopathy (PMID: 16450403, 27362913). ClinVar contains an entry for this variant (Variation ID: 56232). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049644 SCV000082051 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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