ClinVar Miner

Submissions for variant NM_000159.3(GCDH):c.1173delG (p.Asn392Metfs) (rs754002357)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410057 SCV000485337 likely pathogenic Glutaric aciduria, type 1 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000410057 SCV000831180 pathogenic Glutaric aciduria, type 1 2018-02-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GCDH gene (p.Asn392Metfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the GCDH protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as homozygous or in combination with another GCDH variant in individuals affected with glutaric acidemia type I (PMID: 8900228, 10960496, 25762492). ClinVar contains an entry for this variant (Variation ID: 370106). This variant is also known as 1209delG in the literature. For these reasons, this variant has been classified as Pathogenic. Studies have shown that fibroblasts isolated from affected individuals why carry this variant have low residual GCDH enzyme activity (PMID: 10960496).
National Institute of Mental Health and Neurosciences RCV000410057 SCV000897926 likely pathogenic Glutaric aciduria, type 1 2016-06-02 no assertion criteria provided research

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