ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.183+5G>A (rs879253813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236355 SCV000256887 pathogenic Propionic acidemia criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000236355 SCV000915994 uncertain significance Propionic acidemia 2018-08-17 criteria provided, single submitter clinical testing The PCCB c.183+5G>A variant has been reported in a total of three pediatric individuals with propionic acidemia, including in two in a homozygous state and in one in a compound heterozygous state. None of the patients harboring this variant survived (Gupta et al. 2016). The c.183+5G>A variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. The evidence for this variant is limited. The c.183+5G>A variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for propionic acidemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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