ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)

gnomAD frequency: 0.00001  dbSNP: rs922548333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420941 SCV000521653 likely pathogenic not provided 2015-12-11 criteria provided, single submitter clinical testing The R14Q variant in the GFPT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R14Q variant 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. The R14Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The R14Q variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000420941 SCV001762015 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Mendelics RCV002248657 SCV002516463 pathogenic Congenital myasthenic syndrome 4C 2022-05-04 criteria provided, single submitter clinical testing

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