ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) (rs145628302)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000392658 SCV000441262 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626699 SCV000747402 uncertain significance Global developmental delay; Hyperammonemia 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000392658 SCV000756228 likely benign Propionic acidemia 2020-11-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000859703 SCV001154069 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000859703 SCV001778211 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000392658 SCV001460376 uncertain significance Propionic acidemia 2020-01-05 no assertion criteria provided clinical testing

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