ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)

dbSNP: rs139890971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322446 SCV001513317 uncertain significance Cerebral creatine deficiency syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 217 of the GAMT protein (p.Pro217Gln). 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: 1022526). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001830346 SCV002791556 uncertain significance Deficiency of guanidinoacetate methyltransferase 2021-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830346 SCV002087004 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-10-23 no assertion criteria provided clinical testing

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