Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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, |
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. |
Eurofins Ntd Llc |
RCV000592376 | SCV000700482 | benign | not specified | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589799 | SCV000724571 | benign | not provided | 2019-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000370744 | SCV001721567 | benign | Propionic acidemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922503 | SCV004745912 | benign | PCCB-related condition | 2019-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |