Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998839 | SCV001155138 | likely pathogenic | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000998839 | SCV004372015 | uncertain significance | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SAMD9 protein function. ClinVar contains an entry for this variant (Variation ID: 810129). This missense change has been observed in individual(s) with SAMD9-related conditions (PMID: 34958143). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1400 of the SAMD9 protein (p.Pro1400Ser). |