ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.496C>T (p.Gln166Ter)

gnomAD frequency: 0.00001  dbSNP: rs558998633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673783 SCV000799026 likely pathogenic Non-ketotic hyperglycinemia 2018-04-03 criteria provided, single submitter clinical testing
3billion RCV000673783 SCV002521322 pathogenic Non-ketotic hyperglycinemia 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with AMT related disorder (ClinVar ID: VCV000557617 / PMID: 26179960). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV000673783 SCV003525169 pathogenic Non-ketotic hyperglycinemia 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln166*) in the AMT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AMT are known to be pathogenic (PMID: 16450403). This variant is present in population databases (rs558998633, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with nonketotic hyperglycinemia (PMID: 26179960). ClinVar contains an entry for this variant (Variation ID: 557617). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000673783 SCV004196929 pathogenic Non-ketotic hyperglycinemia 2021-10-27 criteria provided, single submitter clinical testing

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