Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000153647 | SCV000239123 | pathogenic | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22033733, 24516753, 24059531, 23430860, 20549364, 12559849, 30705822, 31916709) |
Invitae | RCV000173704 | SCV000631920 | pathogenic | Propionic acidemia | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu331*) in the PCCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). This variant is present in population databases (rs763069936, gnomAD 0.1%). This premature translational stop signal has been observed in individuals with propionic aciduria (PMID: 12559849, 22033733, 23430860, 24516753). ClinVar contains an entry for this variant (Variation ID: 167423). For these reasons, this variant has been classified as Pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000173704 | SCV000697273 | pathogenic | Propionic acidemia | 2017-07-24 | criteria provided, single submitter | clinical testing | Variant summary: The PCCB c.990dupT (p.Glu331X) variant results in a premature termination codon, predicted to cause a truncated or absent PCCB protein due to nonsense mediated decay, which are commonly known mechanisms for disease.This variant was found in 6/121406 control chromosomes at a frequency of 0.0000494, which does not exceed the estimated maximal expected allele frequency of a pathogenic PCCB variant (0.0025). Multiple publications have cited the variant in affected compound heterozygote and homozygote individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Eurofins Ntd Llc |
RCV000153647 | SCV000700506 | pathogenic | not provided | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000173704 | SCV001162959 | pathogenic | Propionic acidemia | criteria provided, single submitter | clinical testing | ||
New York Genome Center | RCV000173704 | SCV002097857 | pathogenic | Propionic acidemia | 2021-01-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000173704 | SCV002811715 | pathogenic | Propionic acidemia | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Rady Children's Institute for Genomic Medicine, |
RCV000173704 | SCV004046091 | pathogenic | Propionic acidemia | criteria provided, single submitter | clinical testing | This nonsense variant found in exon 11 of 16 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as both a compound heterozygous and homozygous change in patients with propionic acidemia (MIM#: 606054; PMID: 12559849, 22033733, 23430860, 24516753). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0008% (25/282848) and thus is presumed to be rare. Based on the available evidence, the c.1050dup (p.Glu351Ter) variant is classified as Pathogenic. | |
Counsyl | RCV000173704 | SCV001132452 | pathogenic | Propionic acidemia | 2016-12-27 | no assertion criteria provided | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000173704 | SCV001132883 | pathogenic | Propionic acidemia | 2019-01-29 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000173704 | SCV001454523 | pathogenic | Propionic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Laboratory Sciences Program |
RCV000173704 | SCV003927927 | pathogenic | Propionic acidemia | 2023-04-01 | no assertion criteria provided | clinical testing |