ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.15_18del (p.Ser6fs)

dbSNP: rs1553638904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667775 SCV000792279 likely pathogenic Non-ketotic hyperglycinemia 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV000667775 SCV001235596 pathogenic Non-ketotic hyperglycinemia 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser6Trpfs*89) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with AMT-related symptoms (PMID: 27362913). This variant is also known as c.13_16delGTAA. ClinVar contains an entry for this variant (Variation ID: 552502). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000667775 SCV004196896 pathogenic Non-ketotic hyperglycinemia 2022-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667775 SCV002081737 pathogenic Non-ketotic hyperglycinemia 2020-09-08 no assertion criteria provided clinical testing

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