ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.301del (p.Asp101fs)

dbSNP: rs780806777
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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 RCV001059955 SCV001224610 pathogenic Cerebral creatine deficiency syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp101Thrfs*13) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GAMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 854826). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467804 SCV004198603 likely pathogenic Deficiency of guanidinoacetate methyltransferase 2024-01-16 criteria provided, single submitter clinical testing

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