ClinVar Miner

Submissions for variant NM_000159.2(GCDH):c.997C>G (p.Gln333Glu) (rs794726972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675103 SCV000800645 uncertain significance Glutaric aciduria, type 1 2018-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000419557 SCV000224785 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000419557 SCV000521169 likely pathogenic not provided 2018-11-02 criteria provided, single submitter clinical testing The Q333E missense change in the GCDH gene has been previously reported as disease-causing (Goodman et al., 1998). Q333E is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. It 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 Q333E variant is predicted to be located on the surface of the GCDH gene and to be involved in GCDH homotetramerisation; approximately 20% of missense variants reported in association with GA1 are located on the surface of GCDH, supporting the functional importance of this region of the protein (Schmiesing et al., 2017). In summary, we interpret Q333E as likely pathogenic.

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