ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)

dbSNP: rs775563122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351767 SCV000441261 uncertain significance Propionic acidemia 2017-04-27 criteria provided, single submitter clinical testing The PCCB c.1402G>A (p.Ala468Thr) missense variant has been identified in a compound heterozygous state in one individual with mild propionic acidemia (Yorifuji et al. 2002). Control data are unavailable for this variant, which is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. When analyzed in vivo, the p.Ala468Thr variant was found to have 5.49% of wildtype PCC activity. The evidence for this variant is limited. The p.Ala468Thr 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.
Counsyl RCV000351767 SCV000798311 uncertain significance Propionic acidemia 2018-03-07 criteria provided, single submitter clinical testing

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