ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)

gnomAD frequency: 0.00001  dbSNP: rs745360675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673919 SCV000799175 uncertain significance Glutaric aciduria, type 1 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV000673919 SCV000825736 pathogenic Glutaric aciduria, type 1 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 429 of the GCDH protein (p.Thr429Met). This variant is present in population databases (rs745360675, gnomAD 0.006%). This missense change has been observed in individual(s) with glutaric aciduria type I (PMID: 9600243, 10699052, 24973495). ClinVar contains an entry for this variant (Variation ID: 557741). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GCDH protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GCDH function (PMID: 9600243, 24973495). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000673919 SCV000891266 pathogenic Glutaric aciduria, type 1 2018-10-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673919 SCV004199231 likely pathogenic Glutaric aciduria, type 1 2023-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000673919 SCV002087001 pathogenic Glutaric aciduria, type 1 2021-03-10 no assertion criteria provided clinical testing

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