Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000366863 | SCV000330850 | uncertain significance | not provided | 2016-09-28 | criteria provided, single submitter | clinical testing | The I48V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I48V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I48V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Prevention |
RCV003422189 | SCV004117693 | uncertain significance | SOS2-related disorder | 2023-04-20 | criteria provided, single submitter | clinical testing | The SOS2 c.142A>G variant is predicted to result in the amino acid substitution p.Ile48Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-50671073-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
| Labcorp Genetics |
RCV005055817 | SCV005701487 | likely benign | Noonan syndrome 9 | 2024-11-04 | criteria provided, single submitter | clinical testing |