ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.79T>C (p.Tyr27His) (rs200833152)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153308 SCV000202787 benign not specified 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000153308 SCV000241179 benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000153308 SCV000247450 uncertain significance not specified 2014-09-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224880 SCV000281130 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001081204 SCV000562805 benign Cerebral creatine deficiency syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718439 SCV000849302 likely benign History of neurodevelopmental disorder 2018-11-03 criteria provided, single submitter clinical testing Intact protein function observed by in vitro/ex vivo assays;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000224880 SCV001143982 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001127426 SCV001286738 uncertain significance Deficiency of guanidinoacetate methyltransferase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GenomeConnect-Association for Creatine Deficiencies RCV001009545 SCV001169640 not provided Guanidinoacetate methyltransferase (GAMT) deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-22-2014 by GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

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