ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) (rs1387778734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778383 SCV000914605 uncertain significance Propionic acidemia 2017-08-22 criteria provided, single submitter clinical testing The PCCA c.230G>A (p.Arg77Gln) missense variant was identified in a compound heterozygous state with a stop-gained variant in a female who was diagnosed with propionic acidemia via urine organic acid analysis after she presented with clinical symptoms (Vatanavicharn et al. 2014). She displayed mild developmental delay in addition to increased excretions of propionylglycine, 3-hydroxypropionate, and methylcitrate and died from cardiac arrest at six years of age, presumably related to suspected cardiomyopathy. The p.Arg77Gln variant was inherited from her presumably unaffected father. Control data are unavailable for this variant, which is reported at a frequency of 0.000033 in the South Asian population of the Genome Aggregation Database. This frequency is based on one allele only; however, this genomic region had adequate coverage, so the variant is presumed to be rare. The variant is also located in an important functional domain of the protein, the biotin carboxylase domain. The evidence for this variant is limited, but based on the evidence available, the p.Arg77Gln variant is 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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