ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.627A>G (p.Ala209=) (rs538229)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180126 SCV000232508 benign not specified 2014-06-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180126 SCV000303458 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392647 SCV000382011 benign Propionic acidemia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180126 SCV000539993 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587997 SCV000696477 benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The PCCA c.627A>G (p.Ala209Ala) variant involves the alteration of a conserved nucleotide causing a synonymous change that 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 17901/121368 control chromosomes (1483 homozygotes) at a frequency of 0.1474936, which is approximately 43 times the estimated maximal expected allele frequency for a pathogenic PCCA variant (0.003446), strong evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000392647 SCV001725436 benign Propionic acidemia 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000392647 SCV001750046 benign Propionic acidemia 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000392647 SCV001455844 benign Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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