ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)

gnomAD frequency: 0.00003  dbSNP: rs552210450
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187563 SCV000241157 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001085182 SCV001005280 likely benign Cerebral creatine deficiency syndrome 2024-11-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000187563 SCV001715486 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433841 SCV002750683 uncertain significance Inborn genetic diseases 2017-06-12 criteria provided, single submitter clinical testing The p.R100W variant (also known as c.298C>T), located in coding exon 2 of the GAMT gene, results from a C to T substitution at nucleotide position 298. The arginine at codon 100 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001275205 SCV004235111 uncertain significance Deficiency of guanidinoacetate methyltransferase 2023-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275205 SCV001460084 likely benign Deficiency of guanidinoacetate methyltransferase 2019-10-28 no assertion criteria provided clinical testing

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