ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)

dbSNP: rs796052525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187571 SCV000241165 likely pathogenic not provided 2020-06-19 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 61 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001378842 SCV001576519 likely pathogenic Cerebral creatine deficiency syndrome 2023-04-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the GAMT protein. Other variant(s) that disrupt this region (p.Gln193*, p.Glu176Serfs*2, p.Glu176Glyfs*15) have been observed in individuals with GAMT-related conditions (PMID: 15108290, 19288536, 23234264). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 205586). 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.Glu176*) in the GAMT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the GAMT protein.
Natera, Inc. RCV001833115 SCV002087016 likely pathogenic Deficiency of guanidinoacetate methyltransferase 2017-06-16 no assertion criteria provided clinical testing

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