ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)

dbSNP: rs786205862
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000171558 SCV000485941 likely pathogenic Glutaric aciduria, type 1 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000171558 SCV002241339 pathogenic Glutaric aciduria, type 1 2021-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with glutaric aciduria type I (PMID: 26071121). ClinVar contains an entry for this variant (Variation ID: 191375). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp225*) in the GCDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCDH are known to be pathogenic (PMID: 10699052, 11854167, 16602100).
Fulgent Genetics, Fulgent Genetics RCV000171558 SCV002806840 pathogenic Glutaric aciduria, type 1 2022-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000171558 SCV003818124 pathogenic Glutaric aciduria, type 1 2022-03-28 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000171558 SCV004048490 pathogenic Glutaric aciduria, type 1 criteria provided, single submitter clinical testing The stop gain c.675G>A (p.Trp225Ter) variant in GCDH gene has been reported previously reported in homozygous state in patients affected with Glutaric Aciduria Type 1(Parag M Tamhankar et al., 2021).The p.Trp225Ter variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The variant is submitted in ClinVar as Likely Pathogenic and Pathogenic. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. The nucleotide change in GCDH is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic. In the absence of second reportable variant/CNV, the molecular diagnosis is not confirmed.
Baylor Genetics RCV000171558 SCV004199208 pathogenic Glutaric aciduria, type 1 2023-09-13 criteria provided, single submitter clinical testing
National Institute of Mental Health and Neurosciences RCV000171558 SCV000223743 pathogenic Glutaric aciduria, type 1 2015-12-08 no assertion criteria provided research

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