ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) (rs1131691644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493155 SCV000582547 pathogenic not provided 2015-10-13 criteria provided, single submitter clinical testing The Y168S pathogenic variant in the GAMT gene has been previously reported in the homozygous state in an individual with phenotypic and biochemical evidence of GAMT deficiency (Bodamer et al., 2009). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This semi-conservative substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, missense variants in nearby residues (C169R/Y, L166P) have been reported in the Human Gene Mutation Database in association with GAMT deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, Y168S is considered a pathogenic variant.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000493155 SCV000883935 likely pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing

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