ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2474G>A (p.Gly825Asp) (rs906049409)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489031 SCV000577659 likely pathogenic not provided 2015-07-30 criteria provided, single submitter clinical testing The G825D variant in the GLDC gene has been reported previously in an individual with a neural tube defect (Narisawa et al., 2012). The G825D 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 G825D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In vitro enzymatic activity assay showed that G825D significantly reduced GLDC activity compared with the wild-type protein (Narisawa et al., 2012). Therefore, we interpret G825D variant as a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded

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