ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1952A>G (p.His651Arg) (rs386833536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430656 SCV000520835 likely pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing The H651R variant in the GLDC gene has been reported previously in association with autosomal recessive nonketotic hyperglycinemia when present in the homozygous state as well as in the heterozygous state in the presence of another nonketotic hyperglycinemia pathogenic gene variant (Conter et al., 2006; Azize et al., 2014). The H651R variant was not observed in approximately 6500 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 H651R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This 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. The H651R variant is a strong candidate for a pathogenic variant.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049464 SCV000081898 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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