Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556291 | SCV004294514 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 880 of the SAMD9L protein (p.His880Gln). For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SAMD9L protein function. ClinVar contains an entry for this variant (Variation ID: 242372). This missense change has been observed in individual(s) with ataxia-pancytopenia syndrome (PMID: 27259050, 30046003). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
OMIM | RCV000234838 | SCV000292027 | pathogenic | Ataxia-pancytopenia syndrome | 2020-12-10 | no assertion criteria provided | literature only | |
Gene |
RCV000234838 | SCV000611899 | not provided | Ataxia-pancytopenia syndrome | no assertion provided | literature only | ||
University of Washington Center for Mendelian Genomics, |
RCV000234838 | SCV000882877 | likely pathogenic | Ataxia-pancytopenia syndrome | 2016-06-06 | no assertion criteria provided | research | |
OMIM | RCV001270307 | SCV001450515 | pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 1 | 2020-12-10 | no assertion criteria provided | literature only |