ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)

gnomAD frequency: 0.00001  dbSNP: rs1215576338
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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 RCV001389319 SCV001590641 pathogenic Cerebral creatine deficiency syndrome 2024-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) in the GAMT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAMT are known to be pathogenic (PMID: 15108290). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GAMT deficiency (PMID: 23234264). ClinVar contains an entry for this variant (Variation ID: 1075655). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469756 SCV004198600 pathogenic Deficiency of guanidinoacetate methyltransferase 2023-11-08 criteria provided, single submitter clinical testing

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