Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002007445 | SCV002234484 | pathogenic | not provided | 2022-08-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp775Leufs*2) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). |
Ambry Genetics | RCV004044348 | SCV002755686 | pathogenic | not specified | 2021-07-23 | criteria provided, single submitter | clinical testing | The c.2322_2325delAGAT pathogenic mutation, located in coding exon 21 of the IKBKAP gene, results from a deletion of 4 nucleotides at nucleotide positions 2322 to 2325, causing a translational frameshift with a predicted alternate stop codon (p.D775Lfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Fulgent Genetics, |
RCV002497863 | SCV002811570 | likely pathogenic | Medulloblastoma; Familial dysautonomia | 2021-10-30 | criteria provided, single submitter | clinical testing |