ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.1056del (p.Ser353fs)

dbSNP: rs2049022161
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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 RCV001226600 SCV001398921 pathogenic Non-ketotic hyperglycinemia 2019-10-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with AMT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the AMT gene (p.Ser353Profs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acids of the AMT protein. This variant disrupts the C-terminus of the AMT protein. Other variant(s) that disrupt this region (p.Tyr369*) have been determined to be pathogenic (PMID: 27362913). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001226600 SCV004196829 likely pathogenic Non-ketotic hyperglycinemia 2023-03-11 criteria provided, single submitter clinical testing

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