ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.574C>T (p.Gln192Ter)

dbSNP: rs121964986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012760 SCV000799410 likely pathogenic Non-ketotic hyperglycinemia 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000012760 SCV002247330 pathogenic Non-ketotic hyperglycinemia 2021-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 11980). This premature translational stop signal has been observed in individual(s) with clinical features of non-ketotic hyperglycinemia (PMID: 10873393). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln192*) 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).
Baylor Genetics RCV000012760 SCV004196863 pathogenic Non-ketotic hyperglycinemia 2023-03-01 criteria provided, single submitter clinical testing
OMIM RCV003230358 SCV000032995 pathogenic Glycine encephalopathy 2 2000-06-01 no assertion criteria provided literature only

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