Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000396304 | SCV000408484 | uncertain significance | Majeed syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000396304 | SCV000645158 | uncertain significance | Majeed syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the LPIN2 gene. It does not directly change the encoded amino acid sequence of the LPIN2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200130790, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 326645). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000788235 | SCV000728662 | likely benign | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000788235 | SCV000927284 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263042 | SCV002543520 | uncertain significance | Autoinflammatory syndrome | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000788235 | SCV001978075 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000788235 | SCV001980624 | likely benign | not provided | no assertion criteria provided | clinical testing |