ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)

gnomAD frequency: 0.00024  dbSNP: rs574164748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457994 SCV000552950 uncertain significance Cerebral creatine deficiency syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3 of the GAMT protein (p.Ala3Thr). 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: 205574). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAMT 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 RCV002317099 SCV000851771 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.7G>A (p.A3T) alteration is located in exon 1 (coding exon 1) of the GAMT gene. This alteration results from a G to A substitution at nucleotide position 7, causing the alanine (A) at amino acid position 3 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000764186 SCV000895188 uncertain significance Deficiency of guanidinoacetate methyltransferase 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000764186 SCV002087068 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-02-26 no assertion criteria provided clinical testing

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