ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)

dbSNP: rs774689819
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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 RCV001239812 SCV001412713 uncertain significance Cerebral creatine deficiency syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 94 of the GAMT protein (p.Gly94Ser). This variant is not present in population databases (gnomAD no frequency). 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: 965376). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004034627 SCV004873731 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.280G>A (p.G94S) alteration is located in exon 2 (coding exon 2) of the GAMT gene. This alteration results from a G to A substitution at nucleotide position 280, causing the glycine (G) at amino acid position 94 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828940 SCV002087048 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-07-06 no assertion criteria provided clinical testing

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