ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)

gnomAD frequency: 0.00002  dbSNP: rs777102623
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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 RCV001295492 SCV001484417 uncertain significance Cerebral creatine deficiency syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 63 of the GAMT protein (p.Arg63Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs777102623, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004035647 SCV004873729 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.187C>T (p.R63W) alteration is located in exon 2 (coding exon 2) of the GAMT gene. This alteration results from a C to T substitution at nucleotide position 187, causing the arginine (R) at amino acid position 63 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830125 SCV002087052 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-06-08 no assertion criteria provided clinical testing

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