ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.184-12G>T (rs181283691)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370744 SCV000441244 benign Propionic acidemia 2018-01-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589799 SCV000697271 benign not provided 2016-02-29 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide located in an intronic position not widely known to affect splicing. Mutation taster predicts neutral outcome for this substitution along with 5/5 in silico tools via Alamut predicting the variant not to have an effect on splicing. The variant was found in the large and broad cohorts of the ExAC project at an allele frequency of 0.5% which exceeds the predicted maximal expected allele frequency of a disease causing PCCB variant (0.0025%) indicating neutrality. Moreover, in the South Asian subcohort of the ExAC project the observed allele frequency as as high as 2.4% including 7 homozygotes, further supporting a benign impact. Considering all evidence, the variant was classified as Benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592376 SCV000700482 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000592376 SCV000724571 likely benign not specified 2017-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000370744 SCV001721567 benign Propionic acidemia 2020-10-26 criteria provided, single submitter clinical testing

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