ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.332_338del (p.Ile111fs)

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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 RCV002811559 SCV003203922 pathogenic Cerebral creatine deficiency syndrome 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with GAMT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile111Argfs*48) 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).
Revvity Omics, Revvity RCV003146644 SCV003834149 likely pathogenic Deficiency of guanidinoacetate methyltransferase 2022-10-12 criteria provided, single submitter clinical testing

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